ClinVar Miner

List of variants reported as uncertain significance for facioscapulohumeral muscular dystrophy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 553
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015295.3(SMCHD1):c.5024A>G (p.His1675Arg) rs201071071 0.00039
NM_015295.3(SMCHD1):c.5006G>A (p.Arg1669Gln) rs368367743 0.00034
NM_015295.3(SMCHD1):c.4255A>G (p.Thr1419Ala) rs191487554 0.00029
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340 0.00026
NM_015295.3(SMCHD1):c.3841A>G (p.Ile1281Val) rs201059575 0.00026
NM_015295.3(SMCHD1):c.4696G>A (p.Val1566Met) rs569043880 0.00021
NM_015295.3(SMCHD1):c.5878+3A>G rs375668696 0.00021
NM_015295.3(SMCHD1):c.3346A>G (p.Thr1116Ala) rs377085725 0.00020
NM_015295.3(SMCHD1):c.5155A>G (p.Ser1719Gly) rs201221497 0.00019
NM_015295.3(SMCHD1):c.4105G>A (p.Val1369Ile) rs375198512 0.00015
NM_015295.3(SMCHD1):c.3514+4A>G rs754405751 0.00014
NM_015295.3(SMCHD1):c.1086A>G (p.Ile362Met) rs201408220 0.00013
NM_015295.3(SMCHD1):c.4783C>G (p.Pro1595Ala) rs369179110 0.00012
NM_015295.3(SMCHD1):c.3639C>A (p.Asn1213Lys) rs780740818 0.00011
NM_015295.3(SMCHD1):c.2635A>G (p.Lys879Glu) rs671942 0.00010
NM_015295.3(SMCHD1):c.2657G>A (p.Arg886Gln) rs372815104 0.00010
NM_015295.3(SMCHD1):c.4912G>A (p.Val1638Ile) rs370473143 0.00010
NM_015295.3(SMCHD1):c.5411T>C (p.Ile1804Thr) rs370249291 0.00009
NM_015295.3(SMCHD1):c.2606G>T (p.Gly869Val) rs548397345 0.00008
NM_015295.3(SMCHD1):c.2612C>A (p.Ser871Tyr) rs372975122 0.00008
NM_015295.3(SMCHD1):c.1031G>A (p.Arg344Gln) rs370983669 0.00007
NM_015295.3(SMCHD1):c.244A>G (p.Ile82Val) rs181045631 0.00007
NM_015295.3(SMCHD1):c.3047C>T (p.Pro1016Leu) rs528154864 0.00006
NM_015295.3(SMCHD1):c.311A>G (p.Asn104Ser) rs375795924 0.00006
NM_015295.3(SMCHD1):c.3596T>C (p.Val1199Ala) rs376586199 0.00006
NM_015295.3(SMCHD1):c.4108C>T (p.Arg1370Cys) rs942559171 0.00006
NM_015295.3(SMCHD1):c.3769C>T (p.Leu1257Phe) rs766226383 0.00005
NM_015295.3(SMCHD1):c.4369G>C (p.Val1457Leu) rs371144443 0.00005
NM_015295.3(SMCHD1):c.933A>G (p.Ile311Met) rs778214060 0.00005
NM_015295.3(SMCHD1):c.1039G>A (p.Ala347Thr) rs776944618 0.00004
NM_015295.3(SMCHD1):c.2605G>A (p.Gly869Ser) rs757305853 0.00004
NM_015295.3(SMCHD1):c.263A>G (p.Asp88Gly) rs200521548 0.00004
NM_015295.3(SMCHD1):c.3023C>T (p.Thr1008Met) rs771100083 0.00004
NM_015295.3(SMCHD1):c.3312G>C (p.Leu1104Phe) rs886042340 0.00004
NM_015295.3(SMCHD1):c.3340G>A (p.Val1114Ile) rs778206654 0.00004
NM_015295.3(SMCHD1):c.3361A>G (p.Met1121Val) rs572540832 0.00004
NM_015295.3(SMCHD1):c.3652A>C (p.Ser1218Arg) rs756052658 0.00004
NM_015295.3(SMCHD1):c.3716G>A (p.Arg1239His) rs750301200 0.00004
NM_015295.3(SMCHD1):c.4544G>A (p.Arg1515Lys) rs372451234 0.00004
NM_015295.3(SMCHD1):c.473G>A (p.Arg158His) rs531460906 0.00004
NM_015295.3(SMCHD1):c.5275G>A (p.Ala1759Thr) rs753994912 0.00004
NM_015295.3(SMCHD1):c.6005A>C (p.Lys2002Thr) rs959328 0.00004
NM_015295.3(SMCHD1):c.920A>G (p.His307Arg) rs755508169 0.00004
NM_015295.3(SMCHD1):c.1186C>A (p.Gln396Lys) rs377471712 0.00003
NM_015295.3(SMCHD1):c.3251C>T (p.Thr1084Ile) rs371392245 0.00003
NM_015295.3(SMCHD1):c.37T>G (p.Ser13Ala) rs751463286 0.00003
NM_015295.3(SMCHD1):c.40G>A (p.Val14Met) rs559283578 0.00003
NM_015295.3(SMCHD1):c.4306A>G (p.Ile1436Val) rs371280641 0.00003
NM_015295.3(SMCHD1):c.5126C>T (p.Ser1709Leu) rs151311806 0.00003
NM_015295.3(SMCHD1):c.5281C>T (p.Arg1761Cys) rs370977174 0.00003
NM_015295.3(SMCHD1):c.5335A>G (p.Ile1779Val) rs747553146 0.00003
NM_015295.3(SMCHD1):c.5936C>T (p.Thr1979Met) rs747322089 0.00003
NM_015295.3(SMCHD1):c.677G>A (p.Arg226His) rs1012435079 0.00003
NM_015295.3(SMCHD1):c.1156G>A (p.Val386Ile) rs753435352 0.00002
NM_015295.3(SMCHD1):c.247A>G (p.Thr83Ala) rs772782379 0.00002
NM_015295.3(SMCHD1):c.2507G>A (p.Arg836His) rs762661772 0.00002
NM_015295.3(SMCHD1):c.2731T>A (p.Leu911Ile) rs770371694 0.00002
NM_015295.3(SMCHD1):c.2914-5A>G rs1215623273 0.00002
NM_015295.3(SMCHD1):c.2944G>C (p.Val982Leu) rs375962247 0.00002
NM_015295.3(SMCHD1):c.2945T>C (p.Val982Ala) rs944887850 0.00002
NM_015295.3(SMCHD1):c.3106G>A (p.Val1036Ile) rs183236583 0.00002
NM_015295.3(SMCHD1):c.3463A>G (p.Met1155Val) rs559928798 0.00002
NM_015295.3(SMCHD1):c.3546G>T (p.Gln1182His) rs757626505 0.00002
NM_015295.3(SMCHD1):c.3586A>G (p.Ile1196Val) rs1443828515 0.00002
NM_015295.3(SMCHD1):c.3710C>T (p.Thr1237Ile) rs761222520 0.00002
NM_015295.3(SMCHD1):c.3881C>T (p.Pro1294Leu) rs759140838 0.00002
NM_015295.3(SMCHD1):c.3890A>G (p.His1297Arg) rs932696032 0.00002
NM_015295.3(SMCHD1):c.4178G>C (p.Ser1393Thr) rs369758530 0.00002
NM_015295.3(SMCHD1):c.4281T>C (p.Asn1427=) rs757680634 0.00002
NM_015295.3(SMCHD1):c.4598T>C (p.Leu1533Ser) rs368255259 0.00002
NM_015295.3(SMCHD1):c.4599G>T (p.Leu1533Phe) rs770018521 0.00002
NM_015295.3(SMCHD1):c.4700A>G (p.Asn1567Ser) rs750920961 0.00002
NM_015295.3(SMCHD1):c.4787G>A (p.Arg1596Gln) rs770649222 0.00002
NM_015295.3(SMCHD1):c.4798T>G (p.Leu1600Val) rs769207224 0.00002
NM_015295.3(SMCHD1):c.485T>C (p.Val162Ala) rs748341516 0.00002
NM_015295.3(SMCHD1):c.1088G>A (p.Arg363Gln) rs1424377867 0.00001
NM_015295.3(SMCHD1):c.1160C>T (p.Pro387Leu) rs754679117 0.00001
NM_015295.3(SMCHD1):c.1247A>G (p.His416Arg) rs2074319161 0.00001
NM_015295.3(SMCHD1):c.1283G>A (p.Arg428His) rs767850671 0.00001
NM_015295.3(SMCHD1):c.1326T>G (p.Asp442Glu) rs199596161 0.00001
NM_015295.3(SMCHD1):c.1339T>A (p.Ser447Thr) rs1325548788 0.00001
NM_015295.3(SMCHD1):c.1390G>T (p.Ala464Ser) rs752328609 0.00001
NM_015295.3(SMCHD1):c.1525A>G (p.Ile509Val) rs1598335785 0.00001
NM_015295.3(SMCHD1):c.1580C>T (p.Thr527Met) rs397518422 0.00001
NM_015295.3(SMCHD1):c.160G>A (p.Ala54Thr) rs1215654409 0.00001
NM_015295.3(SMCHD1):c.176G>T (p.Cys59Phe) rs1469724104 0.00001
NM_015295.3(SMCHD1):c.1801G>T (p.Ala601Ser) rs886044519 0.00001
NM_015295.3(SMCHD1):c.1824A>G (p.Ile608Met) rs577011893 0.00001
NM_015295.3(SMCHD1):c.1996A>G (p.Ile666Val) rs529127480 0.00001
NM_015295.3(SMCHD1):c.19G>A (p.Gly7Ser) rs762420641 0.00001
NM_015295.3(SMCHD1):c.2021C>G (p.Ala674Gly) rs2074515864 0.00001
NM_015295.3(SMCHD1):c.202C>T (p.Pro68Ser) rs1450657748 0.00001
NM_015295.3(SMCHD1):c.2506C>T (p.Arg836Cys) rs777201756 0.00001
NM_015295.3(SMCHD1):c.2533C>G (p.Leu845Val) rs1173599215 0.00001
NM_015295.3(SMCHD1):c.2604T>C (p.Ser868=) rs2074995865 0.00001
NM_015295.3(SMCHD1):c.262+4G>A rs1390219024 0.00001
NM_015295.3(SMCHD1):c.2660G>C (p.Gly887Ala) rs1460743863 0.00001
NM_015295.3(SMCHD1):c.2773+6A>G rs1047960354 0.00001
NM_015295.3(SMCHD1):c.2783G>A (p.Arg928His) rs1160353418 0.00001
NM_015295.3(SMCHD1):c.3124T>C (p.Phe1042Leu) rs561778813 0.00001
NM_015295.3(SMCHD1):c.3245A>G (p.Asn1082Ser) rs756368420 0.00001
NM_015295.3(SMCHD1):c.3260T>C (p.Leu1087Ser) rs930009782 0.00001
NM_015295.3(SMCHD1):c.35C>A (p.Ala12Asp) rs955025983 0.00001
NM_015295.3(SMCHD1):c.3743A>C (p.Gln1248Pro) rs936898120 0.00001
NM_015295.3(SMCHD1):c.3760C>G (p.Pro1254Ala) rs755677576 0.00001
NM_015295.3(SMCHD1):c.3778A>G (p.Ile1260Val) rs191410697 0.00001
NM_015295.3(SMCHD1):c.4008-3T>C rs780935342 0.00001
NM_015295.3(SMCHD1):c.4078A>G (p.Met1360Val) rs1345271914 0.00001
NM_015295.3(SMCHD1):c.4225C>T (p.Arg1409Cys) rs773163969 0.00001
NM_015295.3(SMCHD1):c.4226G>A (p.Arg1409His) rs746741499 0.00001
NM_015295.3(SMCHD1):c.424C>T (p.Pro142Ser) rs780855590 0.00001
NM_015295.3(SMCHD1):c.4294A>G (p.Ser1432Gly) rs764323722 0.00001
NM_015295.3(SMCHD1):c.4316A>G (p.Asn1439Ser) rs767898877 0.00001
NM_015295.3(SMCHD1):c.437C>T (p.Ala146Val) rs886043899 0.00001
NM_015295.3(SMCHD1):c.4517G>A (p.Arg1506His) rs756166672 0.00001
NM_015295.3(SMCHD1):c.4553A>C (p.His1518Pro) rs758405083 0.00001
NM_015295.3(SMCHD1):c.4565C>T (p.Thr1522Met) rs376982809 0.00001
NM_015295.3(SMCHD1):c.4576G>A (p.Asp1526Asn) rs1198273154 0.00001
NM_015295.3(SMCHD1):c.4609A>G (p.Ile1537Val) rs749634060 0.00001
NM_015295.3(SMCHD1):c.4615G>T (p.Ala1539Ser) rs372853279 0.00001
NM_015295.3(SMCHD1):c.4795C>A (p.Leu1599Ile) rs780994607 0.00001
NM_015295.3(SMCHD1):c.482G>T (p.Gly161Val) rs376920153 0.00001
NM_015295.3(SMCHD1):c.4894C>G (p.Gln1632Glu) rs1365539591 0.00001
NM_015295.3(SMCHD1):c.5366+6A>G rs771277442 0.00001
NM_015295.3(SMCHD1):c.5387A>C (p.Asn1796Thr) rs760754729 0.00001
NM_015295.3(SMCHD1):c.5396T>G (p.Leu1799Trp) rs1008517374 0.00001
NM_015295.3(SMCHD1):c.55G>C (p.Asp19His) rs748596758 0.00001
NM_015295.3(SMCHD1):c.561A>T (p.Arg187Ser) rs375259752 0.00001
NM_015295.3(SMCHD1):c.569C>G (p.Thr190Ser) rs1459162980 0.00001
NM_015295.3(SMCHD1):c.5737C>T (p.Arg1913Cys) rs764493125 0.00001
NM_015295.3(SMCHD1):c.5798T>A (p.Leu1933His) rs1405560459 0.00001
NM_015295.3(SMCHD1):c.5887C>G (p.Pro1963Ala) rs1345578577 0.00001
NM_015295.3(SMCHD1):c.5907C>G (p.Asp1969Glu) rs553815732 0.00001
NM_015295.3(SMCHD1):c.5914C>T (p.Arg1972Cys) rs778853203 0.00001
NM_015295.3(SMCHD1):c.5915G>A (p.Arg1972His) rs747849441 0.00001
NM_015295.3(SMCHD1):c.5917C>T (p.His1973Tyr) rs1168784839 0.00001
NM_015295.3(SMCHD1):c.595G>A (p.Val199Met) rs2073683695 0.00001
NM_015295.3(SMCHD1):c.6011A>G (p.Asp2004Gly) rs374747323 0.00001
NM_015295.3(SMCHD1):c.650G>T (p.Gly217Val) rs754937252 0.00001
NM_015295.3(SMCHD1):c.758T>C (p.Ile253Thr) rs1057518622 0.00001
NM_015295.3(SMCHD1):c.76A>T (p.Arg26Trp) rs747375741 0.00001
NM_015295.3(SMCHD1):c.953G>C (p.Ser318Thr) rs745495716 0.00001
NM_015295.3(SMCHD1):c.994A>G (p.Ile332Val) rs748848954 0.00001
NC_000018.9:g.(?_2656055)_(2656280_?)dup
NC_000018.9:g.(?_2656055)_(3215241_?)dup
NC_000018.9:g.(?_2656075)_(2707938_?)dup
NC_000018.9:g.(?_2656075)_(2802550_?)dup
NC_000018.9:g.(?_2718136)_(2718452_?)del
NC_000018.9:g.(?_2760630)_(2802550_?)del
NC_000018.9:g.(?_2763625)_(2763797_?)del
NC_000018.9:g.(?_2795927)_(2802550_?)dup
NM_015295.3(SMCHD1):c.1033C>G (p.Gln345Glu) rs2074249757
NM_015295.3(SMCHD1):c.1034A>G (p.Gln345Arg) rs1057519639
NM_015295.3(SMCHD1):c.1069C>T (p.Pro357Ser)
NM_015295.3(SMCHD1):c.1091C>T (p.Thr364Ile)
NM_015295.3(SMCHD1):c.109G>A (p.Glu37Lys)
NM_015295.3(SMCHD1):c.1103T>A (p.Val368Asp)
NM_015295.3(SMCHD1):c.1126A>T (p.Ile376Phe) rs185618962
NM_015295.3(SMCHD1):c.1150G>T (p.Gly384Trp) rs2143153711
NM_015295.3(SMCHD1):c.1169T>A (p.Val390Asp)
NM_015295.3(SMCHD1):c.1177A>G (p.Arg393Gly) rs2074317652
NM_015295.3(SMCHD1):c.11C>T (p.Ala4Val)
NM_015295.3(SMCHD1):c.1202C>T (p.Thr401Met) rs1555632935
NM_015295.3(SMCHD1):c.1256G>A (p.Gly419Glu)
NM_015295.3(SMCHD1):c.1261G>A (p.Gly421Ser)
NM_015295.3(SMCHD1):c.1264G>A (p.Val422Ile)
NM_015295.3(SMCHD1):c.1268T>C (p.Val423Ala)
NM_015295.3(SMCHD1):c.1304A>G (p.Asp435Gly)
NM_015295.3(SMCHD1):c.131C>T (p.Pro44Leu)
NM_015295.3(SMCHD1):c.1330T>G (p.Cys444Gly)
NM_015295.3(SMCHD1):c.1341A>G (p.Ser447=)
NM_015295.3(SMCHD1):c.1382T>C (p.Leu461Pro)
NM_015295.3(SMCHD1):c.1436G>A (p.Arg479Gln)
NM_015295.3(SMCHD1):c.143G>C (p.Gly48Ala)
NM_015295.3(SMCHD1):c.143G>T (p.Gly48Val)
NM_015295.3(SMCHD1):c.1450A>G (p.Thr484Ala)
NM_015295.3(SMCHD1):c.1451C>T (p.Thr484Ile)
NM_015295.3(SMCHD1):c.1480CCT[1] (p.Pro495del)
NM_015295.3(SMCHD1):c.148C>G (p.Arg50Gly)
NM_015295.3(SMCHD1):c.148C>T (p.Arg50Cys)
NM_015295.3(SMCHD1):c.1502C>T (p.Ala501Val)
NM_015295.3(SMCHD1):c.1507A>G (p.Ile503Val)
NM_015295.3(SMCHD1):c.1532G>A (p.Gly511Asp)
NM_015295.3(SMCHD1):c.1535C>T (p.Ala512Val)
NM_015295.3(SMCHD1):c.1565G>A (p.Ser522Asn) rs2074384298
NM_015295.3(SMCHD1):c.1595A>G (p.Glu532Gly)
NM_015295.3(SMCHD1):c.15C>A (p.Asp5Glu) rs769401596
NM_015295.3(SMCHD1):c.15C>G (p.Asp5Glu)
NM_015295.3(SMCHD1):c.161C>T (p.Ala54Val)
NM_015295.3(SMCHD1):c.1642G>A (p.Gly548Arg)
NM_015295.3(SMCHD1):c.1648-4_1648-3delinsTT rs2143213299
NM_015295.3(SMCHD1):c.169C>T (p.Arg57Cys)
NM_015295.3(SMCHD1):c.1718A>C (p.Gln573Pro) rs2143213762
NM_015295.3(SMCHD1):c.1756C>T (p.Pro586Ser)
NM_015295.3(SMCHD1):c.1757C>T (p.Pro586Leu)
NM_015295.3(SMCHD1):c.1784C>T (p.Pro595Leu) rs2074455499
NM_015295.3(SMCHD1):c.1793C>T (p.Thr598Ile)
NM_015295.3(SMCHD1):c.17G>T (p.Gly6Val)
NM_015295.3(SMCHD1):c.1802C>G (p.Ala601Gly)
NM_015295.3(SMCHD1):c.1807G>A (p.Glu603Lys) rs2143214594
NM_015295.3(SMCHD1):c.1814A>C (p.Asp605Ala)
NM_015295.3(SMCHD1):c.1822A>G (p.Ile608Val)
NM_015295.3(SMCHD1):c.1829A>G (p.Lys610Arg)
NM_015295.3(SMCHD1):c.1844T>G (p.Val615Gly) rs2143233414
NM_015295.3(SMCHD1):c.185A>G (p.Gln62Arg)
NM_015295.3(SMCHD1):c.186+6C>G
NM_015295.3(SMCHD1):c.1891T>C (p.Phe631Leu) rs2143233975
NM_015295.3(SMCHD1):c.1906G>A (p.Asp636Asn)
NM_015295.3(SMCHD1):c.1907A>T (p.Asp636Val)
NM_015295.3(SMCHD1):c.190C>T (p.Leu64Phe) rs969088652
NM_015295.3(SMCHD1):c.1910A>G (p.His637Arg) rs920418184
NM_015295.3(SMCHD1):c.1913A>T (p.Asp638Val) rs2143234295
NM_015295.3(SMCHD1):c.1915G>A (p.Gly639Arg) rs2143234327
NM_015295.3(SMCHD1):c.1930A>G (p.Thr644Ala) rs1201929244
NM_015295.3(SMCHD1):c.194G>A (p.Gly65Asp) rs981876921
NM_015295.3(SMCHD1):c.1975G>A (p.Asp659Asn)
NM_015295.3(SMCHD1):c.1980A>G (p.Glu660=)
NM_015295.3(SMCHD1):c.200C>T (p.Ser67Leu)
NM_015295.3(SMCHD1):c.2024A>C (p.Glu675Ala)
NM_015295.3(SMCHD1):c.2033T>A (p.Val678Asp)
NM_015295.3(SMCHD1):c.2064-20A>G rs1488794671
NM_015295.3(SMCHD1):c.2064G>A (p.Arg688=)
NM_015295.3(SMCHD1):c.2114C>T (p.Pro705Leu)
NM_015295.3(SMCHD1):c.2136A>G (p.Gly712=)
NM_015295.3(SMCHD1):c.2140C>G (p.Pro714Ala)
NM_015295.3(SMCHD1):c.2146+4T>C
NM_015295.3(SMCHD1):c.2161G>C (p.Glu721Gln)
NM_015295.3(SMCHD1):c.216T>G (p.Phe72Leu)
NM_015295.3(SMCHD1):c.2179G>A (p.Gly727Arg) rs1418900866
NM_015295.3(SMCHD1):c.2192A>C (p.Gln731Pro)
NM_015295.3(SMCHD1):c.2206A>G (p.Thr736Ala)
NM_015295.3(SMCHD1):c.220A>G (p.Ile74Val)
NM_015295.3(SMCHD1):c.2236G>A (p.Val746Ile)
NM_015295.3(SMCHD1):c.2241G>T (p.Glu747Asp)
NM_015295.3(SMCHD1):c.2260+3A>G
NM_015295.3(SMCHD1):c.2260+6T>C rs2143259269
NM_015295.3(SMCHD1):c.230C>G (p.Thr77Arg)
NM_015295.3(SMCHD1):c.2328T>A (p.Phe776Leu)
NM_015295.3(SMCHD1):c.2347C>A (p.Gln783Lys)
NM_015295.3(SMCHD1):c.2359A>G (p.Asn787Asp)
NM_015295.3(SMCHD1):c.2372A>G (p.Lys791Arg)
NM_015295.3(SMCHD1):c.2401G>A (p.Ala801Thr)
NM_015295.3(SMCHD1):c.2408C>G (p.Thr803Ser)
NM_015295.3(SMCHD1):c.2411A>T (p.Tyr804Phe)
NM_015295.3(SMCHD1):c.2414C>T (p.Ala805Val)
NM_015295.3(SMCHD1):c.2421_2422delinsTA (p.Arg807_Pro808delinsSerThr)
NM_015295.3(SMCHD1):c.2485G>C (p.Gly829Arg)
NM_015295.3(SMCHD1):c.2530C>T (p.Pro844Ser)
NM_015295.3(SMCHD1):c.253G>T (p.Asp85Tyr)
NM_015295.3(SMCHD1):c.2566C>A (p.Gln856Lys)
NM_015295.3(SMCHD1):c.2568A>T (p.Gln856His) rs1568235257
NM_015295.3(SMCHD1):c.2599G>A (p.Ala867Thr)
NM_015295.3(SMCHD1):c.2616A>T (p.Leu872Phe) rs1405635744
NM_015295.3(SMCHD1):c.2636_2637delinsGT (p.Lys879Ser)
NM_015295.3(SMCHD1):c.2637A>C (p.Lys879Asn) rs633422
NM_015295.3(SMCHD1):c.2642C>T (p.Pro881Leu)
NM_015295.3(SMCHD1):c.2644A>C (p.Asn882His)
NM_015295.3(SMCHD1):c.2668G>A (p.Ala890Thr)
NM_015295.3(SMCHD1):c.266A>T (p.Glu89Val) rs886816476
NM_015295.3(SMCHD1):c.2672A>C (p.Lys891Thr)
NM_015295.3(SMCHD1):c.2698A>G (p.Lys900Glu)
NM_015295.3(SMCHD1):c.2701-4A>G rs2075029334
NM_015295.3(SMCHD1):c.2710C>A (p.Leu904Met)
NM_015295.3(SMCHD1):c.2728G>A (p.Gly910Ser)
NM_015295.3(SMCHD1):c.2743T>C (p.Ser915Pro)
NM_015295.3(SMCHD1):c.2782C>T (p.Arg928Cys)
NM_015295.3(SMCHD1):c.2786G>A (p.Arg929Gln)
NM_015295.3(SMCHD1):c.2822T>C (p.Ile941Thr)
NM_015295.3(SMCHD1):c.2833A>G (p.Thr945Ala)
NM_015295.3(SMCHD1):c.2836G>C (p.Ala946Pro)
NM_015295.3(SMCHD1):c.2857G>A (p.Val953Ile)
NM_015295.3(SMCHD1):c.2860T>G (p.Leu954Val)
NM_015295.3(SMCHD1):c.2874C>A (p.Asp958Glu)
NM_015295.3(SMCHD1):c.2881A>G (p.Thr961Ala)
NM_015295.3(SMCHD1):c.2906A>G (p.His969Arg)
NM_015295.3(SMCHD1):c.2926C>T (p.Pro976Ser)
NM_015295.3(SMCHD1):c.292T>A (p.Tyr98Asn)
NM_015295.3(SMCHD1):c.2938G>A (p.Val980Ile) rs755786183
NM_015295.3(SMCHD1):c.2942A>G (p.Tyr981Cys)
NM_015295.3(SMCHD1):c.2963C>A (p.Ser988Tyr)
NM_015295.3(SMCHD1):c.2981C>G (p.Thr994Arg)
NM_015295.3(SMCHD1):c.2998G>A (p.Val1000Ile)
NM_015295.3(SMCHD1):c.29G>T (p.Gly10Val) rs920894669
NM_015295.3(SMCHD1):c.3018C>G (p.Asp1006Glu)
NM_015295.3(SMCHD1):c.301C>A (p.Gln101Lys) rs2073456934
NM_015295.3(SMCHD1):c.302A>G (p.Gln101Arg)
NM_015295.3(SMCHD1):c.3035G>T (p.Arg1012Ile)
NM_015295.3(SMCHD1):c.3048+3A>G
NM_015295.3(SMCHD1):c.3053G>T (p.Cys1018Phe)
NM_015295.3(SMCHD1):c.3059A>T (p.Asp1020Val) rs998650409
NM_015295.3(SMCHD1):c.3067C>T (p.Pro1023Ser)
NM_015295.3(SMCHD1):c.3085A>C (p.Lys1029Gln)
NM_015295.3(SMCHD1):c.3125T>A (p.Phe1042Tyr)
NM_015295.3(SMCHD1):c.3148A>T (p.Ile1050Phe) rs1568260824
NM_015295.3(SMCHD1):c.3179G>T (p.Trp1060Leu)
NM_015295.3(SMCHD1):c.3182T>A (p.Ile1061Lys) rs764839018
NM_015295.3(SMCHD1):c.3185C>T (p.Ala1062Val)
NM_015295.3(SMCHD1):c.3186G>A (p.Ala1062=)
NM_015295.3(SMCHD1):c.3200A>G (p.His1067Arg)
NM_015295.3(SMCHD1):c.3219G>A (p.Met1073Ile)
NM_015295.3(SMCHD1):c.3223G>A (p.Asp1075Asn)
NM_015295.3(SMCHD1):c.3247A>G (p.Ile1083Val)
NM_015295.3(SMCHD1):c.3256G>A (p.Ala1086Thr)
NM_015295.3(SMCHD1):c.3271_3276del (p.Ile1091_Lys1092del) rs2075161238
NM_015295.3(SMCHD1):c.3286A>G (p.Thr1096Ala)
NM_015295.3(SMCHD1):c.3316C>G (p.Gln1106Glu)
NM_015295.3(SMCHD1):c.331A>G (p.Thr111Ala) rs2143805894
NM_015295.3(SMCHD1):c.332C>T (p.Thr111Met)
NM_015295.3(SMCHD1):c.3339A>G (p.Gln1113=) rs2075291026
NM_015295.3(SMCHD1):c.3350C>T (p.Ser1117Phe)
NM_015295.3(SMCHD1):c.3365G>A (p.Arg1122His)
NM_015295.3(SMCHD1):c.3410G>A (p.Ser1137Asn)
NM_015295.3(SMCHD1):c.3413C>T (p.Ala1138Val)
NM_015295.3(SMCHD1):c.3414G>T (p.Ala1138=)
NM_015295.3(SMCHD1):c.341G>A (p.Arg114Gln)
NM_015295.3(SMCHD1):c.3421G>A (p.Val1141Ile)
NM_015295.3(SMCHD1):c.3425+5G>C rs2075292456
NM_015295.3(SMCHD1):c.3479C>T (p.Thr1160Ile) rs2075308543
NM_015295.3(SMCHD1):c.3490G>A (p.Gly1164Ser) rs2143538437
NM_015295.3(SMCHD1):c.3497A>T (p.Glu1166Val)
NM_015295.3(SMCHD1):c.34G>A (p.Ala12Thr)
NM_015295.3(SMCHD1):c.3514+5G>A
NM_015295.3(SMCHD1):c.3527_3528inv (p.Thr1176Met)
NM_015295.3(SMCHD1):c.3538G>A (p.Gly1180Arg)
NM_015295.3(SMCHD1):c.353T>C (p.Leu118Ser)
NM_015295.3(SMCHD1):c.3548T>C (p.Ile1183Thr) rs1469819950
NM_015295.3(SMCHD1):c.3549T>G (p.Ile1183Met)
NM_015295.3(SMCHD1):c.3563C>G (p.Pro1188Arg) rs1598391266
NM_015295.3(SMCHD1):c.3565A>G (p.Ser1189Gly)
NM_015295.3(SMCHD1):c.3574T>C (p.Ser1192Pro)
NM_015295.3(SMCHD1):c.3575C>T (p.Ser1192Phe)
NM_015295.3(SMCHD1):c.3592G>A (p.Gly1198Arg) rs2143548034
NM_015295.3(SMCHD1):c.3607A>G (p.Ser1203Gly)
NM_015295.3(SMCHD1):c.3608G>C (p.Ser1203Thr) rs2143548195
NM_015295.3(SMCHD1):c.3609C>G (p.Ser1203Arg) rs2143548226
NM_015295.3(SMCHD1):c.3610T>C (p.Ser1204Pro)
NM_015295.3(SMCHD1):c.3619A>G (p.Lys1207Glu)
NM_015295.3(SMCHD1):c.3620A>G (p.Lys1207Arg) rs1249504713
NM_015295.3(SMCHD1):c.3645_3646delinsTT (p.Gln1215_Ser1216delinsHisCys) rs2143569473
NM_015295.3(SMCHD1):c.3656T>G (p.Val1219Gly)
NM_015295.3(SMCHD1):c.3659G>A (p.Arg1220Lys)
NM_015295.3(SMCHD1):c.3673A>T (p.Ile1225Phe)
NM_015295.3(SMCHD1):c.3682C>G (p.Pro1228Ala)
NM_015295.3(SMCHD1):c.3698A>G (p.Asp1233Gly)
NM_015295.3(SMCHD1):c.3700C>G (p.Leu1234Val) rs1214211314
NM_015295.3(SMCHD1):c.3715C>T (p.Arg1239Cys) rs771294371
NM_015295.3(SMCHD1):c.3739G>A (p.Val1247Met)
NM_015295.3(SMCHD1):c.3760C>T (p.Pro1254Ser)
NM_015295.3(SMCHD1):c.3769C>G (p.Leu1257Val)
NM_015295.3(SMCHD1):c.3774_3776del (p.Leu1259del) rs766432458
NM_015295.3(SMCHD1):c.3794T>C (p.Leu1265Pro)
NM_015295.3(SMCHD1):c.3801G>A (p.Glu1267=)
NM_015295.3(SMCHD1):c.3803C>T (p.Ser1268Phe)
NM_015295.3(SMCHD1):c.3805A>C (p.Ile1269Leu) rs2075478758
NM_015295.3(SMCHD1):c.3847G>A (p.Val1283Ile)
NM_015295.3(SMCHD1):c.3854T>C (p.Leu1285Pro)
NM_015295.3(SMCHD1):c.3856T>C (p.Cys1286Arg)
NM_015295.3(SMCHD1):c.385A>G (p.Met129Val)
NM_015295.3(SMCHD1):c.3862C>G (p.Gln1288Glu)
NM_015295.3(SMCHD1):c.3881C>A (p.Pro1294Gln)
NM_015295.3(SMCHD1):c.38C>T (p.Ser13Phe)
NM_015295.3(SMCHD1):c.3927+5G>A
NM_015295.3(SMCHD1):c.3927+6T>C
NM_015295.3(SMCHD1):c.3931A>G (p.Met1311Val)
NM_015295.3(SMCHD1):c.3948G>T (p.Gln1316His)
NM_015295.3(SMCHD1):c.3950A>C (p.His1317Pro) rs2143616515
NM_015295.3(SMCHD1):c.3971G>A (p.Arg1324Lys) rs1555647170
NM_015295.3(SMCHD1):c.3972G>T (p.Arg1324Ser)
NM_015295.3(SMCHD1):c.3973G>A (p.Ala1325Thr) rs2075542752
NM_015295.3(SMCHD1):c.4001C>T (p.Ala1334Val)
NM_015295.3(SMCHD1):c.4004C>T (p.Pro1335Leu)
NM_015295.3(SMCHD1):c.4017T>G (p.His1339Gln) rs2143618467
NM_015295.3(SMCHD1):c.4018A>G (p.Thr1340Ala)
NM_015295.3(SMCHD1):c.4025A>G (p.Gln1342Arg) rs775109874
NM_015295.3(SMCHD1):c.4079T>C (p.Met1360Thr)
NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp) rs1057519643
NM_015295.3(SMCHD1):c.4097A>G (p.Glu1366Gly)
NM_015295.3(SMCHD1):c.4100A>G (p.Lys1367Arg) rs2143618974
NM_015295.3(SMCHD1):c.4101A>C (p.Lys1367Asn)
NM_015295.3(SMCHD1):c.4108C>G (p.Arg1370Gly) rs942559171
NM_015295.3(SMCHD1):c.4115A>C (p.Asn1372Thr) rs538621932
NM_015295.3(SMCHD1):c.4117G>T (p.Val1373Phe)
NM_015295.3(SMCHD1):c.4133A>G (p.Asp1378Gly)
NM_015295.3(SMCHD1):c.4136_4137inv (p.Ala1379Val)
NM_015295.3(SMCHD1):c.4153G>A (p.Gly1385Ser) rs774329481
NM_015295.3(SMCHD1):c.4153G>C (p.Gly1385Arg)
NM_015295.3(SMCHD1):c.4153G>T (p.Gly1385Cys) rs774329481
NM_015295.3(SMCHD1):c.4154G>T (p.Gly1385Val)
NM_015295.3(SMCHD1):c.4156C>G (p.Leu1386Val)
NM_015295.3(SMCHD1):c.4162A>G (p.Thr1388Ala)
NM_015295.3(SMCHD1):c.4165+3G>A
NM_015295.3(SMCHD1):c.4197C>G (p.Asp1399Glu)
NM_015295.3(SMCHD1):c.4201A>G (p.Ile1401Val) rs1463980636
NM_015295.3(SMCHD1):c.4205T>A (p.Ile1402Asn)
NM_015295.3(SMCHD1):c.4210A>G (p.Asn1404Asp)
NM_015295.3(SMCHD1):c.4218T>C (p.Asn1406=)
NM_015295.3(SMCHD1):c.4242G>A (p.Met1414Ile)
NM_015295.3(SMCHD1):c.4266C>G (p.Asn1422Lys)
NM_015295.3(SMCHD1):c.4282G>A (p.Ala1428Thr)
NM_015295.3(SMCHD1):c.4314T>A (p.Asp1438Glu) rs1011114157
NM_015295.3(SMCHD1):c.4314T>G (p.Asp1438Glu) rs1011114157
NM_015295.3(SMCHD1):c.4335C>G (p.Cys1445Trp)
NM_015295.3(SMCHD1):c.4368A>T (p.Lys1456Asn)
NM_015295.3(SMCHD1):c.437C>G (p.Ala146Gly) rs886043899
NM_015295.3(SMCHD1):c.4393G>T (p.Gly1465Cys)
NM_015295.3(SMCHD1):c.43G>T (p.Gly15Trp)
NM_015295.3(SMCHD1):c.4412C>G (p.Thr1471Arg)
NM_015295.3(SMCHD1):c.4424A>G (p.Asn1475Ser)
NM_015295.3(SMCHD1):c.4428T>A (p.Ser1476Arg)
NM_015295.3(SMCHD1):c.4441G>A (p.Val1481Ile) rs1598416020
NM_015295.3(SMCHD1):c.4444G>A (p.Glu1482Lys)
NM_015295.3(SMCHD1):c.445A>C (p.Ile149Leu) rs2143841667
NM_015295.3(SMCHD1):c.4469A>G (p.Lys1490Arg)
NM_015295.3(SMCHD1):c.4474G>C (p.Val1492Leu)
NM_015295.3(SMCHD1):c.4493C>T (p.Pro1498Leu)
NM_015295.3(SMCHD1):c.4504G>A (p.Val1502Ile)
NM_015295.3(SMCHD1):c.4522G>A (p.Val1508Ile)
NM_015295.3(SMCHD1):c.4547A>T (p.Asp1516Val)
NM_015295.3(SMCHD1):c.4558A>T (p.Ser1520Cys) rs1793822504
NM_015295.3(SMCHD1):c.4559G>A (p.Ser1520Asn)
NM_015295.3(SMCHD1):c.455C>T (p.Ser152Leu)
NM_015295.3(SMCHD1):c.4577A>G (p.Asp1526Gly)
NM_015295.3(SMCHD1):c.4583A>T (p.His1528Leu)
NM_015295.3(SMCHD1):c.4585A>G (p.Thr1529Ala)
NM_015295.3(SMCHD1):c.4592T>C (p.Ile1531Thr)
NM_015295.3(SMCHD1):c.4601T>C (p.Val1534Ala) rs1555650440
NM_015295.3(SMCHD1):c.4634A>T (p.Asn1545Ile) rs776704924
NM_015295.3(SMCHD1):c.4652C>A (p.Thr1551Asn) rs764313867
NM_015295.3(SMCHD1):c.4654C>T (p.Pro1552Ser)
NM_015295.3(SMCHD1):c.4664T>C (p.Ile1555Thr)
NM_015295.3(SMCHD1):c.4696G>T (p.Val1566Leu)
NM_015295.3(SMCHD1):c.4706C>T (p.Ser1569Leu)
NM_015295.3(SMCHD1):c.4717A>C (p.Met1573Leu)
NM_015295.3(SMCHD1):c.4717A>G (p.Met1573Val) rs1428214885
NM_015295.3(SMCHD1):c.4717A>T (p.Met1573Leu)
NM_015295.3(SMCHD1):c.4719+4A>T
NM_015295.3(SMCHD1):c.473G>C (p.Arg158Pro)
NM_015295.3(SMCHD1):c.4774G>T (p.Val1592Leu) rs755339676
NM_015295.3(SMCHD1):c.4795C>G (p.Leu1599Val)
NM_015295.3(SMCHD1):c.4810T>G (p.Leu1604Val) rs1371894096
NM_015295.3(SMCHD1):c.4825C>A (p.Leu1609Ile) rs2075943009
NM_015295.3(SMCHD1):c.4828C>A (p.Pro1610Thr)
NM_015295.3(SMCHD1):c.4834A>T (p.Met1612Leu) rs370675357
NM_015295.3(SMCHD1):c.4849G>A (p.Val1617Ile)
NM_015295.3(SMCHD1):c.484G>A (p.Val162Ile)
NM_015295.3(SMCHD1):c.4880C>A (p.Thr1627Lys) rs2075948990
NM_015295.3(SMCHD1):c.488GAA[1] (p.Arg164del) rs1598293848
NM_015295.3(SMCHD1):c.4901C>G (p.Ser1634Cys)
NM_015295.3(SMCHD1):c.4909A>G (p.Ile1637Val)
NM_015295.3(SMCHD1):c.4915A>G (p.Met1639Val) rs1555651856
NM_015295.3(SMCHD1):c.4924A>T (p.Ser1642Cys) rs765796991
NM_015295.3(SMCHD1):c.4945C>G (p.Gln1649Glu) rs1855678942
NM_015295.3(SMCHD1):c.4956T>G (p.Asn1652Lys)
NM_015295.3(SMCHD1):c.4966+3A>G
NM_015295.3(SMCHD1):c.499A>G (p.Ile167Val)
NM_015295.3(SMCHD1):c.5006G>T (p.Arg1669Leu) rs368367743
NM_015295.3(SMCHD1):c.5020A>G (p.Ile1674Val)
NM_015295.3(SMCHD1):c.5035A>G (p.Ile1679Val)
NM_015295.3(SMCHD1):c.5038C>G (p.Pro1680Ala) rs769986044
NM_015295.3(SMCHD1):c.5041A>G (p.Thr1681Ala)
NM_015295.3(SMCHD1):c.5042C>T (p.Thr1681Ile)
NM_015295.3(SMCHD1):c.5044A>G (p.Thr1682Ala) rs2143748168
NM_015295.3(SMCHD1):c.5052+16A>G
NM_015295.3(SMCHD1):c.5052+4C>T
NM_015295.3(SMCHD1):c.5081G>C (p.Arg1694Thr)
NM_015295.3(SMCHD1):c.5095C>G (p.Gln1699Glu)
NM_015295.3(SMCHD1):c.5124A>G (p.Arg1708=)
NM_015295.3(SMCHD1):c.5131A>G (p.Thr1711Ala)
NM_015295.3(SMCHD1):c.5153G>T (p.Gly1718Val)
NM_015295.3(SMCHD1):c.5157T>A (p.Ser1719Arg)
NM_015295.3(SMCHD1):c.5162A>G (p.Asp1721Gly)
NM_015295.3(SMCHD1):c.5176-8G>A rs2143771244
NM_015295.3(SMCHD1):c.51GGA[1] (p.Glu18del) rs1294074624
NM_015295.3(SMCHD1):c.5235G>A (p.Leu1745=)
NM_015295.3(SMCHD1):c.5255T>G (p.Val1752Gly)
NM_015295.3(SMCHD1):c.5262_5270del (p.Leu1755_Thr1757del) rs2076057081
NM_015295.3(SMCHD1):c.5274C>G (p.Asp1758Glu) rs377503335
NM_015295.3(SMCHD1):c.5284C>A (p.Arg1762Ser) rs202006154
NM_015295.3(SMCHD1):c.5285G>A (p.Arg1762His)
NM_015295.3(SMCHD1):c.5356G>A (p.Asp1786Asn) rs373881061
NM_015295.3(SMCHD1):c.5362A>G (p.Lys1788Glu)
NM_015295.3(SMCHD1):c.5366+4A>G rs2143772026
NM_015295.3(SMCHD1):c.5367-16A>G
NM_015295.3(SMCHD1):c.5377C>T (p.His1793Tyr)
NM_015295.3(SMCHD1):c.5384G>A (p.Arg1795Gln)
NM_015295.3(SMCHD1):c.5399A>G (p.Tyr1800Cys)
NM_015295.3(SMCHD1):c.5404A>C (p.Lys1802Gln)
NM_015295.3(SMCHD1):c.5410A>T (p.Ile1804Phe)
NM_015295.3(SMCHD1):c.5432G>A (p.Arg1811Gln)
NM_015295.3(SMCHD1):c.5437T>G (p.Leu1813Val) rs2143783851
NM_015295.3(SMCHD1):c.544G>A (p.Val182Met)
NM_015295.3(SMCHD1):c.5500A>G (p.Thr1834Ala)
NM_015295.3(SMCHD1):c.5504T>C (p.Ile1835Thr)
NM_015295.3(SMCHD1):c.5507T>C (p.Ile1836Thr)
NM_015295.3(SMCHD1):c.5525C>T (p.Ala1842Val)
NM_015295.3(SMCHD1):c.5545G>A (p.Glu1849Lys)
NM_015295.3(SMCHD1):c.5548G>A (p.Val1850Ile)
NM_015295.3(SMCHD1):c.55G>T (p.Asp19Tyr)
NM_015295.3(SMCHD1):c.5647A>G (p.Met1883Val) rs776598393
NM_015295.3(SMCHD1):c.5650G>C (p.Asp1884His) rs2143815414
NM_015295.3(SMCHD1):c.5660G>A (p.Arg1887Gln)
NM_015295.3(SMCHD1):c.5678C>T (p.Ala1893Val)
NM_015295.3(SMCHD1):c.5686C>G (p.Pro1896Ala)
NM_015295.3(SMCHD1):c.5696G>A (p.Cys1899Tyr)
NM_015295.3(SMCHD1):c.5723T>A (p.Leu1908His)
NM_015295.3(SMCHD1):c.5723TTC[1] (p.Leu1909del)
NM_015295.3(SMCHD1):c.5729A>G (p.Gln1910Arg)
NM_015295.3(SMCHD1):c.5758G>C (p.Asp1920His)
NM_015295.3(SMCHD1):c.5760C>G (p.Asp1920Glu)
NM_015295.3(SMCHD1):c.5773G>A (p.Asp1925Asn)
NM_015295.3(SMCHD1):c.5775T>A (p.Asp1925Glu) rs374989057
NM_015295.3(SMCHD1):c.5782A>G (p.Ser1928Gly) rs1170346716
NM_015295.3(SMCHD1):c.5783G>A (p.Ser1928Asn)
NM_015295.3(SMCHD1):c.5800C>T (p.Arg1934Cys)
NM_015295.3(SMCHD1):c.5801G>A (p.Arg1934His)
NM_015295.3(SMCHD1):c.5812A>G (p.Met1938Val) rs1598460238
NM_015295.3(SMCHD1):c.583A>T (p.Asn195Tyr)
NM_015295.3(SMCHD1):c.5881A>G (p.Met1961Val)
NM_015295.3(SMCHD1):c.5893C>T (p.Arg1965Cys)
NM_015295.3(SMCHD1):c.5894G>A (p.Arg1965His)
NM_015295.3(SMCHD1):c.5894G>C (p.Arg1965Pro) rs755578313
NM_015295.3(SMCHD1):c.5912T>G (p.Leu1971Trp)
NM_015295.3(SMCHD1):c.5950G>T (p.Val1984Phe)
NM_015295.3(SMCHD1):c.6004A>G (p.Lys2002Glu)
NM_015295.3(SMCHD1):c.606G>T (p.Leu202Phe) rs2143845898
NM_015295.3(SMCHD1):c.608C>T (p.Ser203Leu) rs1598294699
NM_015295.3(SMCHD1):c.614T>A (p.Phe205Tyr)
NM_015295.3(SMCHD1):c.625G>A (p.Gly209Ser)
NM_015295.3(SMCHD1):c.638+4A>T
NM_015295.3(SMCHD1):c.642T>G (p.Asp214Glu)
NM_015295.3(SMCHD1):c.649G>A (p.Gly217Arg)
NM_015295.3(SMCHD1):c.659G>A (p.Arg220His)
NM_015295.3(SMCHD1):c.661C>G (p.Pro221Ala)
NM_015295.3(SMCHD1):c.676C>T (p.Arg226Cys) rs2074100315
NM_015295.3(SMCHD1):c.692A>G (p.Asp231Gly)
NM_015295.3(SMCHD1):c.694A>G (p.Ile232Val) rs1568143698
NM_015295.3(SMCHD1):c.71G>A (p.Gly24Asp)
NM_015295.3(SMCHD1):c.74A>G (p.His25Arg)
NM_015295.3(SMCHD1):c.753+3A>G
NM_015295.3(SMCHD1):c.753A>G (p.Arg251=)
NM_015295.3(SMCHD1):c.773A>T (p.Asp258Val)
NM_015295.3(SMCHD1):c.79A>G (p.Thr27Ala) rs2073049032
NM_015295.3(SMCHD1):c.823A>G (p.Lys275Glu)
NM_015295.3(SMCHD1):c.839A>G (p.Glu280Gly)
NM_015295.3(SMCHD1):c.844A>G (p.Ile282Val)
NM_015295.3(SMCHD1):c.846A>G (p.Ile282Met) rs886044033
NM_015295.3(SMCHD1):c.853G>A (p.Gly285Arg) rs1568144816
NM_015295.3(SMCHD1):c.873+6A>G
NM_015295.3(SMCHD1):c.889C>T (p.His297Tyr)
NM_015295.3(SMCHD1):c.896C>T (p.Thr299Ile)
NM_015295.3(SMCHD1):c.931A>G (p.Ile311Val)
NM_015295.3(SMCHD1):c.976G>C (p.Gly326Arg)
NM_015295.3(SMCHD1):c.993C>G (p.His331Gln)

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