ClinVar Miner

List of variants in gene SMCHD1 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 414
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HGVS dbSNP gnomAD frequency
NM_015295.3(SMCHD1):c.2913+6C>G rs186678728 0.00153
NM_015295.3(SMCHD1):c.985C>A (p.Pro329Thr) rs145233420 0.00119
NM_015295.3(SMCHD1):c.5878+8T>G rs144115061 0.00097
NM_015295.3(SMCHD1):c.2063+20G>T rs368528253 0.00083
NM_015295.3(SMCHD1):c.1132-14C>T rs184510956 0.00053
NM_015295.3(SMCHD1):c.3636A>G (p.Glu1212=) rs372008124 0.00053
NM_015295.3(SMCHD1):c.789C>T (p.His263=) rs374899324 0.00046
NM_015295.3(SMCHD1):c.1843-16A>T rs569911568 0.00042
NM_015295.3(SMCHD1):c.1957-3C>T rs201069969 0.00040
NM_015295.3(SMCHD1):c.2151G>A (p.Ala717=) rs372945746 0.00040
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=) rs375251871 0.00037
NM_015295.3(SMCHD1):c.2152T>C (p.Leu718=) rs112500113 0.00033
NM_015295.3(SMCHD1):c.425-12G>C rs376303409 0.00031
NM_015295.3(SMCHD1):c.5787A>G (p.Gln1929=) rs369084979 0.00026
NM_015295.3(SMCHD1):c.4119T>G (p.Val1373=) rs780548113 0.00024
NM_015295.3(SMCHD1):c.1608A>G (p.Lys536=) rs72862973 0.00021
NM_015295.3(SMCHD1):c.2064-9T>C rs376058538 0.00019
NM_015295.3(SMCHD1):c.2774-18T>C rs373552130 0.00019
NM_015295.3(SMCHD1):c.2603+16A>G rs766800112 0.00018
NM_015295.3(SMCHD1):c.263-10_263-9del rs779834935 0.00014
NM_015295.3(SMCHD1):c.1843-19T>A rs756749163 0.00013
NM_015295.3(SMCHD1):c.2025G>A (p.Glu675=) rs766575963 0.00012
NM_015295.3(SMCHD1):c.1297T>C (p.Leu433=) rs375376651 0.00011
NM_015295.3(SMCHD1):c.681T>C (p.Ser227=) rs368569998 0.00011
NM_015295.3(SMCHD1):c.1290T>C (p.His430=) rs376328601 0.00010
NM_015295.3(SMCHD1):c.1947A>G (p.Gln649=) rs201805227 0.00010
NM_015295.3(SMCHD1):c.279T>G (p.Asp93Glu) rs201466122 0.00010
NM_015295.3(SMCHD1):c.2925T>A (p.Ala975=) rs763236583 0.00010
NM_015295.3(SMCHD1):c.4166-7A>G rs377273773 0.00010
NM_015295.3(SMCHD1):c.2458+18A>G rs549402675 0.00009
NM_015295.3(SMCHD1):c.54G>C (p.Glu18Asp) rs779165187 0.00009
NM_015295.3(SMCHD1):c.5719+10A>G rs372447642 0.00007
NM_015295.3(SMCHD1):c.2353T>C (p.Leu785=) rs371760133 0.00006
NM_015295.3(SMCHD1):c.2604-12T>G rs764048268 0.00006
NM_015295.3(SMCHD1):c.2700+14A>G rs761914243 0.00006
NM_015295.3(SMCHD1):c.4161C>T (p.Phe1387=) rs553970445 0.00006
NM_015295.3(SMCHD1):c.4320C>T (p.Asp1440=) rs374154803 0.00006
NM_015295.3(SMCHD1):c.4434+18A>G rs374523905 0.00006
NM_015295.3(SMCHD1):c.2261-18C>G rs759283996 0.00005
NM_015295.3(SMCHD1):c.2604-19A>G rs150461391 0.00005
NM_015295.3(SMCHD1):c.3414G>A (p.Ala1138=) rs778892054 0.00005
NM_015295.3(SMCHD1):c.3802-12T>C rs199707863 0.00005
NM_015295.3(SMCHD1):c.4461A>G (p.Gln1487=) rs763699437 0.00005
NM_015295.3(SMCHD1):c.925C>G (p.Leu309Val) rs569470518 0.00005
NM_015295.3(SMCHD1):c.1041-14C>A rs989924712 0.00004
NM_015295.3(SMCHD1):c.1203G>A (p.Thr401=) rs370222371 0.00004
NM_015295.3(SMCHD1):c.1329A>G (p.Pro443=) rs374141580 0.00004
NM_015295.3(SMCHD1):c.1843-18_1843-17insA rs761012092 0.00004
NM_015295.3(SMCHD1):c.2289G>A (p.Ser763=) rs58683258 0.00004
NM_015295.3(SMCHD1):c.2604-7T>C rs751707679 0.00004
NM_015295.3(SMCHD1):c.288C>T (p.Thr96=) rs369550628 0.00004
NM_015295.3(SMCHD1):c.333G>A (p.Thr111=) rs761171049 0.00004
NM_015295.3(SMCHD1):c.3435T>C (p.Pro1145=) rs747652827 0.00004
NM_015295.3(SMCHD1):c.3868G>T (p.Asp1290Tyr) rs146798599 0.00004
NM_015295.3(SMCHD1):c.4347-12T>C rs769640288 0.00004
NM_015295.3(SMCHD1):c.5046A>G (p.Thr1682=) rs886043784 0.00004
NM_015295.3(SMCHD1):c.744A>G (p.Gln248=) rs746148722 0.00004
NM_015295.3(SMCHD1):c.873+10A>T rs1177629965 0.00004
NM_015295.3(SMCHD1):c.1191C>T (p.Asp397=) rs535674229 0.00003
NM_015295.3(SMCHD1):c.2424A>C (p.Pro808=) rs374039360 0.00003
NM_015295.3(SMCHD1):c.3276+8T>C rs772312020 0.00003
NM_015295.3(SMCHD1):c.3633+10C>T rs368857612 0.00003
NM_015295.3(SMCHD1):c.4966+19A>G rs778801964 0.00003
NM_015295.3(SMCHD1):c.5127G>A (p.Ser1709=) rs371834462 0.00003
NM_015295.3(SMCHD1):c.5478A>G (p.Val1826=) rs886043464 0.00003
NM_015295.3(SMCHD1):c.5625C>T (p.Gly1875=) rs886044408 0.00003
NM_015295.3(SMCHD1):c.5879-17A>G rs763402425 0.00003
NM_015295.3(SMCHD1):c.1218A>G (p.Thr406=) rs963226015 0.00002
NM_015295.3(SMCHD1):c.1320T>C (p.Pro440=) rs200156169 0.00002
NM_015295.3(SMCHD1):c.1479T>C (p.Thr493=) rs755868793 0.00002
NM_015295.3(SMCHD1):c.2147-14T>C rs2074554013 0.00002
NM_015295.3(SMCHD1):c.2154A>G (p.Leu718=) rs776954514 0.00002
NM_015295.3(SMCHD1):c.297G>C (p.Leu99=) rs775442569 0.00002
NM_015295.3(SMCHD1):c.3425+16_3425+18dup rs1213313124 0.00002
NM_015295.3(SMCHD1):c.3732T>C (p.Phe1244=) rs765602142 0.00002
NM_015295.3(SMCHD1):c.4272C>A (p.Pro1424=) rs752121089 0.00002
NM_015295.3(SMCHD1):c.4282-16C>T rs746082747 0.00002
NM_015295.3(SMCHD1):c.5526G>A (p.Ala1842=) rs760266416 0.00002
NM_015295.3(SMCHD1):c.5646A>C (p.Pro1882=) rs557482877 0.00002
NM_015295.3(SMCHD1):c.5993+16C>G rs377444596 0.00002
NM_015295.3(SMCHD1):c.1132-13C>T rs765394765 0.00001
NM_015295.3(SMCHD1):c.1581G>A (p.Thr527=) rs761176866 0.00001
NM_015295.3(SMCHD1):c.2067C>T (p.Leu689=) rs753167881 0.00001
NM_015295.3(SMCHD1):c.2260+7A>G rs764802774 0.00001
NM_015295.3(SMCHD1):c.2261-12T>C rs1358948386 0.00001
NM_015295.3(SMCHD1):c.2433T>G (p.Ser811=) rs760899591 0.00001
NM_015295.3(SMCHD1):c.2520A>G (p.Pro840=) rs1445022098 0.00001
NM_015295.3(SMCHD1):c.2532T>G (p.Pro844=) rs772962657 0.00001
NM_015295.3(SMCHD1):c.2577T>C (p.Thr859=) rs1408054045 0.00001
NM_015295.3(SMCHD1):c.263-12T>C rs1173742117 0.00001
NM_015295.3(SMCHD1):c.2700+12G>A rs376324678 0.00001
NM_015295.3(SMCHD1):c.2701-14T>G rs777446610 0.00001
NM_015295.3(SMCHD1):c.2701-8T>C rs1324600079 0.00001
NM_015295.3(SMCHD1):c.2799A>G (p.Lys933=) rs368087638 0.00001
NM_015295.3(SMCHD1):c.2979A>G (p.Leu993=) rs575046640 0.00001
NM_015295.3(SMCHD1):c.3049-6T>G rs758476553 0.00001
NM_015295.3(SMCHD1):c.3277-5C>T rs542259388 0.00001
NM_015295.3(SMCHD1):c.3471A>G (p.Gly1157=) rs375795599 0.00001
NM_015295.3(SMCHD1):c.3495A>G (p.Gln1165=) rs547534862 0.00001
NM_015295.3(SMCHD1):c.3654T>C (p.Ser1218=) rs1346924634 0.00001
NM_015295.3(SMCHD1):c.3801+18T>C rs1191159371 0.00001
NM_015295.3(SMCHD1):c.3891T>C (p.His1297=) rs758075470 0.00001
NM_015295.3(SMCHD1):c.3948G>A (p.Gln1316=) rs776456103 0.00001
NM_015295.3(SMCHD1):c.3957A>G (p.Thr1319=) rs759050934 0.00001
NM_015295.3(SMCHD1):c.4007+7A>G rs763769769 0.00001
NM_015295.3(SMCHD1):c.4008-18C>T rs748505246 0.00001
NM_015295.3(SMCHD1):c.4166-9C>T rs778265654 0.00001
NM_015295.3(SMCHD1):c.4452G>C (p.Leu1484=) rs373559293 0.00001
NM_015295.3(SMCHD1):c.4567-4T>C rs1324426042 0.00001
NM_015295.3(SMCHD1):c.4575C>T (p.Tyr1525=) rs757336537 0.00001
NM_015295.3(SMCHD1):c.45G>A (p.Gly15=) rs756352980 0.00001
NM_015295.3(SMCHD1):c.4752G>A (p.Arg1584=) rs779960156 0.00001
NM_015295.3(SMCHD1):c.4938C>T (p.Ala1646=) rs559005440 0.00001
NM_015295.3(SMCHD1):c.5016A>G (p.Leu1672=) rs890327982 0.00001
NM_015295.3(SMCHD1):c.507+12A>C rs1433903378 0.00001
NM_015295.3(SMCHD1):c.5547+19T>C rs764978818 0.00001
NM_015295.3(SMCHD1):c.5547+20T>C rs565471829 0.00001
NM_015295.3(SMCHD1):c.5937G>A (p.Thr1979=) rs776794549 0.00001
NM_015295.3(SMCHD1):c.630C>T (p.Asp210=) rs778017141 0.00001
NM_015295.3(SMCHD1):c.63A>G (p.Gly21=) rs772718353 0.00001
NM_015295.3(SMCHD1):c.90G>A (p.Leu30=) rs1555622278 0.00001
NM_015295.3(SMCHD1):c.954C>T (p.Ser318=) rs769558309 0.00001
NM_015295.3(SMCHD1):c.1003T>C (p.Leu335=)
NM_015295.3(SMCHD1):c.1040+11A>G
NM_015295.3(SMCHD1):c.1041-16T>C
NM_015295.3(SMCHD1):c.1041-9C>T rs1444381490
NM_015295.3(SMCHD1):c.105A>G (p.Glu35=)
NM_015295.3(SMCHD1):c.1131+16A>T rs7235096
NM_015295.3(SMCHD1):c.1132-18G>T
NM_015295.3(SMCHD1):c.1132-20T>G
NM_015295.3(SMCHD1):c.1132-8T>C rs2143153429
NM_015295.3(SMCHD1):c.114C>A (p.Ser38=)
NM_015295.3(SMCHD1):c.114C>G (p.Ser38=) rs191609659
NM_015295.3(SMCHD1):c.1152G>A (p.Gly384=)
NM_015295.3(SMCHD1):c.1164G>A (p.Lys388=) rs778279069
NM_015295.3(SMCHD1):c.1173C>T (p.Asn391=) rs771879056
NM_015295.3(SMCHD1):c.120C>T (p.Leu40=)
NM_015295.3(SMCHD1):c.1239C>T (p.Phe413=) rs2074318840
NM_015295.3(SMCHD1):c.133C>T (p.Leu45=)
NM_015295.3(SMCHD1):c.1342+18C>T
NM_015295.3(SMCHD1):c.1343-15G>A
NM_015295.3(SMCHD1):c.1343-19A>G
NM_015295.3(SMCHD1):c.1343-4C>T rs1216116526
NM_015295.3(SMCHD1):c.1343-7G>C
NM_015295.3(SMCHD1):c.1374T>C (p.Cys458=)
NM_015295.3(SMCHD1):c.1395T>C (p.Ala465=)
NM_015295.3(SMCHD1):c.1401G>A (p.Gly467=)
NM_015295.3(SMCHD1):c.1446A>G (p.Pro482=) rs754277921
NM_015295.3(SMCHD1):c.1463+10A>G rs2074381441
NM_015295.3(SMCHD1):c.1463+15T>C
NM_015295.3(SMCHD1):c.1463+7_1463+8dup
NM_015295.3(SMCHD1):c.1464-15T>G rs1802886942
NM_015295.3(SMCHD1):c.1464-7G>C rs1347095679
NM_015295.3(SMCHD1):c.1464-9C>T
NM_015295.3(SMCHD1):c.1503A>G (p.Ala501=)
NM_015295.3(SMCHD1):c.1548T>C (p.Asn516=)
NM_015295.3(SMCHD1):c.15C>T (p.Asp5=)
NM_015295.3(SMCHD1):c.162G>A (p.Ala54=) rs766395572
NM_015295.3(SMCHD1):c.162G>T (p.Ala54=) rs766395572
NM_015295.3(SMCHD1):c.1647+16A>G rs2143185143
NM_015295.3(SMCHD1):c.1648-4A>G
NM_015295.3(SMCHD1):c.1818A>G (p.Gly606=) rs1360515676
NM_015295.3(SMCHD1):c.1843-12dup rs556665119
NM_015295.3(SMCHD1):c.1843-16A>G rs569911568
NM_015295.3(SMCHD1):c.1843-18_1843-17inv
NM_015295.3(SMCHD1):c.1843-8_1843-5del rs765362255
NM_015295.3(SMCHD1):c.187-14C>T
NM_015295.3(SMCHD1):c.187-7T>C
NM_015295.3(SMCHD1):c.189A>T (p.Thr63=)
NM_015295.3(SMCHD1):c.1908T>C (p.Asp636=)
NM_015295.3(SMCHD1):c.1911T>C (p.His637=) rs2143234263
NM_015295.3(SMCHD1):c.1932A>T (p.Thr644=) rs930570856
NM_015295.3(SMCHD1):c.1956+9G>A
NM_015295.3(SMCHD1):c.2004G>A (p.Lys668=)
NM_015295.3(SMCHD1):c.2043T>C (p.Tyr681=)
NM_015295.3(SMCHD1):c.2063+19T>C
NM_015295.3(SMCHD1):c.2064-8C>T
NM_015295.3(SMCHD1):c.2109A>G (p.Leu703=)
NM_015295.3(SMCHD1):c.2112G>A (p.Leu704=)
NM_015295.3(SMCHD1):c.2142T>A (p.Pro714=) rs2074549685
NM_015295.3(SMCHD1):c.2147-16A>G
NM_015295.3(SMCHD1):c.2166A>C (p.Ile722=)
NM_015295.3(SMCHD1):c.2169G>A (p.Leu723=) rs746090352
NM_015295.3(SMCHD1):c.2232C>A (p.Leu744=)
NM_015295.3(SMCHD1):c.2260+12A>G
NM_015295.3(SMCHD1):c.2261-7T>C rs1598360357
NM_015295.3(SMCHD1):c.2280G>A (p.Glu760=)
NM_015295.3(SMCHD1):c.2283T>A (p.Ile761=) rs773520979
NM_015295.3(SMCHD1):c.2289G>T (p.Ser763=)
NM_015295.3(SMCHD1):c.2301A>G (p.Gln767=)
NM_015295.3(SMCHD1):c.2338+14C>T
NM_015295.3(SMCHD1):c.2338+17A>C
NM_015295.3(SMCHD1):c.2358G>T (p.Gly786=)
NM_015295.3(SMCHD1):c.2364T>C (p.Tyr788=)
NM_015295.3(SMCHD1):c.2424A>G (p.Pro808=)
NM_015295.3(SMCHD1):c.2458+19T>C
NM_015295.3(SMCHD1):c.2458+20A>G
NM_015295.3(SMCHD1):c.2459-12T>C
NM_015295.3(SMCHD1):c.2459-19A>T
NM_015295.3(SMCHD1):c.2459-9T>C rs2143405369
NM_015295.3(SMCHD1):c.24G>T (p.Gly8=)
NM_015295.3(SMCHD1):c.2514A>G (p.Gly838=)
NM_015295.3(SMCHD1):c.2529C>T (p.Ile843=)
NM_015295.3(SMCHD1):c.2603+11G>T
NM_015295.3(SMCHD1):c.2604-14T>C rs1199638838
NM_015295.3(SMCHD1):c.2604-15A>T
NM_015295.3(SMCHD1):c.2604-5C>T
NM_015295.3(SMCHD1):c.262+18C>T
NM_015295.3(SMCHD1):c.262+20A>G
NM_015295.3(SMCHD1):c.263-15C>T
NM_015295.3(SMCHD1):c.263-8G>C
NM_015295.3(SMCHD1):c.2664T>C (p.Val888=)
NM_015295.3(SMCHD1):c.2688T>G (p.Ser896=)
NM_015295.3(SMCHD1):c.2700+15T>C
NM_015295.3(SMCHD1):c.2701-16T>G
NM_015295.3(SMCHD1):c.2767C>T (p.Leu923=)
NM_015295.3(SMCHD1):c.2769A>G (p.Leu923=)
NM_015295.3(SMCHD1):c.2773+10T>C
NM_015295.3(SMCHD1):c.2773+16G>C
NM_015295.3(SMCHD1):c.2773+9A>G
NM_015295.3(SMCHD1):c.2774-16T>C
NM_015295.3(SMCHD1):c.2787A>G (p.Arg929=)
NM_015295.3(SMCHD1):c.2790G>A (p.Leu930=) rs2075068076
NM_015295.3(SMCHD1):c.27T>C (p.Pro9=)
NM_015295.3(SMCHD1):c.2835A>T (p.Thr945=)
NM_015295.3(SMCHD1):c.2841C>T (p.Phe947=)
NM_015295.3(SMCHD1):c.2860T>C (p.Leu954=)
NM_015295.3(SMCHD1):c.2871A>G (p.Ser957=)
NM_015295.3(SMCHD1):c.2877_2878inv (p.Ile960Val)
NM_015295.3(SMCHD1):c.288C>G (p.Thr96=) rs369550628
NM_015295.3(SMCHD1):c.2896T>C (p.Leu966=)
NM_015295.3(SMCHD1):c.2914-11C>T rs1339481816
NM_015295.3(SMCHD1):c.2914-8T>C rs886043095
NM_015295.3(SMCHD1):c.2982A>C (p.Thr994=) rs1435103613
NM_015295.3(SMCHD1):c.3033A>C (p.Ala1011=)
NM_015295.3(SMCHD1):c.3033A>T (p.Ala1011=) rs2075091813
NM_015295.3(SMCHD1):c.3048+17A>G
NM_015295.3(SMCHD1):c.3048+19del
NM_015295.3(SMCHD1):c.3049-10C>T
NM_015295.3(SMCHD1):c.3049-13C>T
NM_015295.3(SMCHD1):c.318A>G (p.Leu106=) rs2143805753
NM_015295.3(SMCHD1):c.319C>T (p.Leu107=) rs769766392
NM_015295.3(SMCHD1):c.3252A>C (p.Thr1084=)
NM_015295.3(SMCHD1):c.3276+20T>G
NM_015295.3(SMCHD1):c.3277-11T>C
NM_015295.3(SMCHD1):c.3297T>C (p.Ile1099=)
NM_015295.3(SMCHD1):c.3381A>G (p.Ser1127=) rs747331582
NM_015295.3(SMCHD1):c.3393T>C (p.Asp1131=)
NM_015295.3(SMCHD1):c.3425+15_3425+17del
NM_015295.3(SMCHD1):c.3425+16A>G
NM_015295.3(SMCHD1):c.3425+19T>A
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=) rs76290319
NM_015295.3(SMCHD1):c.3451T>C (p.Leu1151=) rs759659672
NM_015295.3(SMCHD1):c.3514+10G>T rs2075309207
NM_015295.3(SMCHD1):c.3514+20A>C
NM_015295.3(SMCHD1):c.3514+7A>G rs886044081
NM_015295.3(SMCHD1):c.3515-13C>T
NM_015295.3(SMCHD1):c.3515-15T>G
NM_015295.3(SMCHD1):c.3515-5T>C
NM_015295.3(SMCHD1):c.3522A>T (p.Ile1174=)
NM_015295.3(SMCHD1):c.3600A>G (p.Gly1200=)
NM_015295.3(SMCHD1):c.3633+10C>G
NM_015295.3(SMCHD1):c.3633+10_3633+16del rs1555644751
NM_015295.3(SMCHD1):c.3634-20A>G
NM_015295.3(SMCHD1):c.369A>G (p.Thr123=)
NM_015295.3(SMCHD1):c.3708T>C (p.Phe1236=)
NM_015295.3(SMCHD1):c.3774C>T (p.Leu1258=) rs1598395228
NM_015295.3(SMCHD1):c.3801+9C>T
NM_015295.3(SMCHD1):c.3802-13C>T rs1296305929
NM_015295.3(SMCHD1):c.3802-19A>G
NM_015295.3(SMCHD1):c.3802-4del rs1568298152
NM_015295.3(SMCHD1):c.3804C>T (p.Ser1268=) rs1598399244
NM_015295.3(SMCHD1):c.3831A>G (p.Leu1277=) rs2075479218
NM_015295.3(SMCHD1):c.3852A>G (p.Gln1284=)
NM_015295.3(SMCHD1):c.3882G>A (p.Pro1294=)
NM_015295.3(SMCHD1):c.3927+16C>T rs1238138673
NM_015295.3(SMCHD1):c.3928-23_3928-19del
NM_015295.3(SMCHD1):c.4007+13A>G
NM_015295.3(SMCHD1):c.4007+19A>G
NM_015295.3(SMCHD1):c.4008-7_4008-3del rs760383946
NM_015295.3(SMCHD1):c.4008-7_4008-6del
NM_015295.3(SMCHD1):c.408A>G (p.Glu136=) rs1057519643
NM_015295.3(SMCHD1):c.4165+17C>A
NM_015295.3(SMCHD1):c.4166-15C>T rs753246346
NM_015295.3(SMCHD1):c.420T>G (p.Pro140=) rs2143806315
NM_015295.3(SMCHD1):c.424+11C>T
NM_015295.3(SMCHD1):c.424+12A>G
NM_015295.3(SMCHD1):c.424+16A>G
NM_015295.3(SMCHD1):c.424+18A>G
NM_015295.3(SMCHD1):c.425-7C>T rs1182600898
NM_015295.3(SMCHD1):c.4281+10G>A
NM_015295.3(SMCHD1):c.4281+14A>C rs753497494
NM_015295.3(SMCHD1):c.4281+17A>G rs1177961257
NM_015295.3(SMCHD1):c.4282-5dup rs752013568
NM_015295.3(SMCHD1):c.4282-8C>G
NM_015295.3(SMCHD1):c.432T>A (p.Ala144=) rs1017630458
NM_015295.3(SMCHD1):c.4346+14C>T
NM_015295.3(SMCHD1):c.4347-19_4347-15del rs2143682631
NM_015295.3(SMCHD1):c.438G>A (p.Ala146=)
NM_015295.3(SMCHD1):c.441A>G (p.Glu147=)
NM_015295.3(SMCHD1):c.4434+14T>G rs1422686702
NM_015295.3(SMCHD1):c.4434+15T>G
NM_015295.3(SMCHD1):c.4434+16T>C
NM_015295.3(SMCHD1):c.4434+9A>G
NM_015295.3(SMCHD1):c.4435-15C>A
NM_015295.3(SMCHD1):c.4435-5G>A
NM_015295.3(SMCHD1):c.4443T>C (p.Val1481=) rs369643056
NM_015295.3(SMCHD1):c.4452G>A (p.Leu1484=)
NM_015295.3(SMCHD1):c.4470G>A (p.Lys1490=)
NM_015295.3(SMCHD1):c.4494T>C (p.Pro1498=)
NM_015295.3(SMCHD1):c.4524T>A (p.Val1508=)
NM_015295.3(SMCHD1):c.4566+11T>C
NM_015295.3(SMCHD1):c.4566+20A>G
NM_015295.3(SMCHD1):c.4680A>G (p.Thr1560=)
NM_015295.3(SMCHD1):c.4707G>A (p.Ser1569=)
NM_015295.3(SMCHD1):c.4719+14A>G
NM_015295.3(SMCHD1):c.4719+16C>A
NM_015295.3(SMCHD1):c.471T>C (p.Ser157=)
NM_015295.3(SMCHD1):c.4720-10A>G
NM_015295.3(SMCHD1):c.474T>G (p.Arg158=) rs2143841810
NM_015295.3(SMCHD1):c.4755T>C (p.Asp1585=)
NM_015295.3(SMCHD1):c.4770T>C (p.Phe1590=)
NM_015295.3(SMCHD1):c.4773T>C (p.Ile1591=)
NM_015295.3(SMCHD1):c.4827A>G (p.Leu1609=) rs774077792
NM_015295.3(SMCHD1):c.4830G>A (p.Pro1610=)
NM_015295.3(SMCHD1):c.4846+11A>G
NM_015295.3(SMCHD1):c.4846+15A>G
NM_015295.3(SMCHD1):c.4846+20A>G
NM_015295.3(SMCHD1):c.4863A>G (p.Gln1621=)
NM_015295.3(SMCHD1):c.4947G>A (p.Gln1649=) rs2075950490
NM_015295.3(SMCHD1):c.4950T>G (p.Leu1650=) rs201477496
NM_015295.3(SMCHD1):c.4967-13T>G rs753578196
NM_015295.3(SMCHD1):c.4967-17T>C
NM_015295.3(SMCHD1):c.4967-20T>C
NM_015295.3(SMCHD1):c.4967-8T>C
NM_015295.3(SMCHD1):c.5001A>G (p.Gln1667=) rs777769712
NM_015295.3(SMCHD1):c.5002T>C (p.Leu1668=) rs746740103
NM_015295.3(SMCHD1):c.5052+19C>T
NM_015295.3(SMCHD1):c.5052+20G>T rs762065052
NM_015295.3(SMCHD1):c.5053-10T>A rs1598429596
NM_015295.3(SMCHD1):c.505T>C (p.Leu169=)
NM_015295.3(SMCHD1):c.507+16T>C
NM_015295.3(SMCHD1):c.507+17G>A rs771404268
NM_015295.3(SMCHD1):c.5079A>G (p.Lys1693=) rs2143751963
NM_015295.3(SMCHD1):c.508-13T>C
NM_015295.3(SMCHD1):c.5127G>T (p.Ser1709=) rs371834462
NM_015295.3(SMCHD1):c.5175+11A>G
NM_015295.3(SMCHD1):c.5175+14A>G
NM_015295.3(SMCHD1):c.5176-16T>C
NM_015295.3(SMCHD1):c.5176-20T>C
NM_015295.3(SMCHD1):c.5202T>C (p.Asp1734=)
NM_015295.3(SMCHD1):c.5214G>A (p.Ala1738=)
NM_015295.3(SMCHD1):c.5253T>C (p.Cys1751=) rs1172138387
NM_015295.3(SMCHD1):c.5325C>T (p.Pro1775=) rs2143771828
NM_015295.3(SMCHD1):c.5358T>C (p.Asp1786=)
NM_015295.3(SMCHD1):c.5364A>G (p.Lys1788=) rs2143772005
NM_015295.3(SMCHD1):c.5366+10A>G
NM_015295.3(SMCHD1):c.5367-10T>C
NM_015295.3(SMCHD1):c.5367-12C>T
NM_015295.3(SMCHD1):c.5367-14T>G
NM_015295.3(SMCHD1):c.5367-7T>C
NM_015295.3(SMCHD1):c.5391A>C (p.Gly1797=) rs2143783601
NM_015295.3(SMCHD1):c.5409C>T (p.Pro1803=)
NM_015295.3(SMCHD1):c.5476+15G>A
NM_015295.3(SMCHD1):c.5476+16G>T
NM_015295.3(SMCHD1):c.5476+19A>G
NM_015295.3(SMCHD1):c.5476+9_5476+10inv
NM_015295.3(SMCHD1):c.5477-13T>C rs1335164613
NM_015295.3(SMCHD1):c.5477-16T>C rs1303675561
NM_015295.3(SMCHD1):c.5548-10T>C
NM_015295.3(SMCHD1):c.555T>C (p.Asn185=) rs1451229050
NM_015295.3(SMCHD1):c.5613A>G (p.Gly1871=)
NM_015295.3(SMCHD1):c.5697T>C (p.Cys1899=) rs2143815572
NM_015295.3(SMCHD1):c.5719+9A>C
NM_015295.3(SMCHD1):c.5720-4A>G
NM_015295.3(SMCHD1):c.5720-5T>C
NM_015295.3(SMCHD1):c.5730G>A (p.Gln1910=)
NM_015295.3(SMCHD1):c.573T>A (p.Ser191=)
NM_015295.3(SMCHD1):c.5808G>A (p.Pro1936=)
NM_015295.3(SMCHD1):c.5860C>T (p.Leu1954=)
NM_015295.3(SMCHD1):c.5878+17T>C
NM_015295.3(SMCHD1):c.5879-20T>C
NM_015295.3(SMCHD1):c.5879-7T>G
NM_015295.3(SMCHD1):c.5889C>A (p.Pro1963=) rs2143862551
NM_015295.3(SMCHD1):c.5925A>G (p.Pro1975=)
NM_015295.3(SMCHD1):c.594C>G (p.Ala198=)
NM_015295.3(SMCHD1):c.5958T>A (p.Pro1986=) rs886042374
NM_015295.3(SMCHD1):c.5973A>T (p.Arg1991=) rs770381523
NM_015295.3(SMCHD1):c.597G>A (p.Val199=)
NM_015295.3(SMCHD1):c.5991T>C (p.Asn1997=)
NM_015295.3(SMCHD1):c.5993+3_5993+7dup
NM_015295.3(SMCHD1):c.5994-12C>G rs2076382342
NM_015295.3(SMCHD1):c.5994-6G>C
NM_015295.3(SMCHD1):c.6012T>C (p.Asp2004=)
NM_015295.3(SMCHD1):c.638+14_638+17del rs763531102
NM_015295.3(SMCHD1):c.638+17T>C
NM_015295.3(SMCHD1):c.639-20G>A rs973692034
NM_015295.3(SMCHD1):c.714G>A (p.Gly238=)
NM_015295.3(SMCHD1):c.714G>C (p.Gly238=)
NM_015295.3(SMCHD1):c.753+7A>G
NM_015295.3(SMCHD1):c.754-14_754-13del
NM_015295.3(SMCHD1):c.837A>G (p.Lys279=)
NM_015295.3(SMCHD1):c.873+14_873+18del rs2143052218
NM_015295.3(SMCHD1):c.873+19C>T
NM_015295.3(SMCHD1):c.873+24_873+29del
NM_015295.3(SMCHD1):c.873+7dup
NM_015295.3(SMCHD1):c.873+8A>T
NM_015295.3(SMCHD1):c.873+9C>A
NM_015295.3(SMCHD1):c.874-16C>G
NM_015295.3(SMCHD1):c.874-20A>G
NM_015295.3(SMCHD1):c.882T>C (p.Asp294=)
NM_015295.3(SMCHD1):c.885T>A (p.Ser295=)
NM_015295.3(SMCHD1):c.963T>C (p.Ala321=) rs2143118993
NM_015295.3(SMCHD1):c.990A>G (p.Glu330=) rs1001785728

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