ClinVar Miner

List of variants in gene SMCHD1 reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 222
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HGVS dbSNP gnomAD frequency
NM_015295.3(SMCHD1):c.873+7T>C rs114242799 0.00957
NM_015295.3(SMCHD1):c.2147-7C>T rs113524119 0.00473
NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=) rs117771893 0.00426
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750 0.00303
NM_015295.3(SMCHD1):c.424+10C>T rs201631086 0.00225
NM_015295.3(SMCHD1):c.1956+7C>T rs145755468 0.00201
NM_015295.3(SMCHD1):c.4104C>T (p.Pro1368=) rs117794949 0.00181
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.150C>G (p.Arg50=) rs139872818 0.00086
NM_015295.3(SMCHD1):c.306G>A (p.Ser102=) rs7229488 0.00063
NM_015295.3(SMCHD1):c.3633+7C>T rs200391083 0.00060
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.1957-3C>T rs201069969 0.00040
NM_015295.3(SMCHD1):c.2151G>A (p.Ala717=) rs372945746 0.00040
NM_015295.3(SMCHD1):c.5024A>G (p.His1675Arg) rs201071071 0.00039
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=) rs375251871 0.00037
NM_015295.3(SMCHD1):c.5006G>A (p.Arg1669Gln) rs368367743 0.00034
NM_015295.3(SMCHD1):c.2152T>C (p.Leu718=) rs112500113 0.00033
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.5787A>G (p.Gln1929=) rs369084979 0.00026
NM_015295.3(SMCHD1):c.3527C>T (p.Thr1176Ile) rs553452960 0.00025
NM_015295.3(SMCHD1):c.1608A>G (p.Lys536=) rs72862973 0.00021
NM_015295.3(SMCHD1):c.4696G>A (p.Val1566Met) rs569043880 0.00021
NM_015295.3(SMCHD1):c.2064-9T>C rs376058538 0.00019
NM_015295.3(SMCHD1):c.5155A>G (p.Ser1719Gly) rs201221497 0.00019
NM_015295.3(SMCHD1):c.3872A>G (p.Asn1291Ser) rs201497685 0.00017
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.2025G>A (p.Glu675=) rs766575963 0.00012
NM_015295.3(SMCHD1):c.4783C>G (p.Pro1595Ala) rs369179110 0.00012
NM_015295.3(SMCHD1):c.1290T>C (p.His430=) rs376328601 0.00010
NM_015295.3(SMCHD1):c.279T>G (p.Asp93Glu) rs201466122 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.54G>C (p.Glu18Asp) rs779165187 0.00009
NM_015295.3(SMCHD1):c.2147-5C>T rs184984483 0.00008
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.4135G>A (p.Ala1379Thr) rs1039632433 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.4109G>A (p.Arg1370His) rs185137363 0.00007
NM_015295.3(SMCHD1):c.3047C>T (p.Pro1016Leu) rs528154864 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.3414G>A (p.Ala1138=) rs778892054 0.00005
NM_015295.3(SMCHD1):c.3769C>T (p.Leu1257Phe) rs766226383 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.1039G>A (p.Ala347Thr) rs776944618 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.263A>G (p.Asp88Gly) rs200521548 0.00004
NM_015295.3(SMCHD1):c.288C>T (p.Thr96=) rs369550628 0.00004
NM_015295.3(SMCHD1):c.321A>G (p.Leu107=) rs567120742 0.00004
NM_015295.3(SMCHD1):c.3312G>C (p.Leu1104Phe) rs886042340 0.00004
NM_015295.3(SMCHD1):c.333G>A (p.Thr111=) rs761171049 0.00004
NM_015295.3(SMCHD1):c.3340G>A (p.Val1114Ile) rs778206654 0.00004
NM_015295.3(SMCHD1):c.3606T>C (p.Asp1202=) rs539377223 0.00004
NM_015295.3(SMCHD1):c.3868G>T (p.Asp1290Tyr) rs146798599 0.00004
NM_015295.3(SMCHD1):c.473G>A (p.Arg158His) rs531460906 0.00004
NM_015295.3(SMCHD1):c.5046A>G (p.Thr1682=) rs886043784 0.00004
NM_015295.3(SMCHD1):c.6005A>C (p.Lys2002Thr) rs959328 0.00004
NM_015295.3(SMCHD1):c.744A>G (p.Gln248=) rs746148722 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.1191C>T (p.Asp397=) rs535674229 0.00003
NM_015295.3(SMCHD1):c.2424A>C (p.Pro808=) rs374039360 0.00003
NM_015295.3(SMCHD1):c.3251C>T (p.Thr1084Ile) rs371392245 0.00003
NM_015295.3(SMCHD1):c.3633+10C>T rs368857612 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.5478A>G (p.Val1826=) rs886043464 0.00003
NM_015295.3(SMCHD1):c.5625C>T (p.Gly1875=) rs886044408 0.00003
NM_015295.3(SMCHD1):c.1479T>C (p.Thr493=) rs755868793 0.00002
NM_015295.3(SMCHD1):c.2507G>A (p.Arg836His) rs762661772 0.00002
NM_015295.3(SMCHD1):c.4040A>G (p.Tyr1347Cys) rs774156694 0.00002
NM_015295.3(SMCHD1):c.4178G>C (p.Ser1393Thr) rs369758530 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.4786C>T (p.Arg1596Trp) rs746646525 0.00002
NM_015295.3(SMCHD1):c.4787G>A (p.Arg1596Gln) rs770649222 0.00002
NM_015295.3(SMCHD1):c.5526G>A (p.Ala1842=) rs760266416 0.00002
NM_015295.3(SMCHD1):c.130C>A (p.Pro44Thr) rs1271107369 0.00001
NM_015295.3(SMCHD1):c.1390G>T (p.Ala464Ser) rs752328609 0.00001
NM_015295.3(SMCHD1):c.1647+7T>A rs1339306673 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.1905C>T (p.Gly635=) rs770290837 0.00001
NM_015295.3(SMCHD1):c.1996A>G (p.Ile666Val) rs529127480 0.00001
NM_015295.3(SMCHD1):c.2283T>C (p.Ile761=) rs773520979 0.00001
NM_015295.3(SMCHD1):c.2577T>C (p.Thr859=) rs1408054045 0.00001
NM_015295.3(SMCHD1):c.2660G>C (p.Gly887Ala) rs1460743863 0.00001
NM_015295.3(SMCHD1):c.2701-8T>C rs1324600079 0.00001
NM_015295.3(SMCHD1):c.3245A>G (p.Asn1082Ser) rs756368420 0.00001
NM_015295.3(SMCHD1):c.3277-5C>T rs542259388 0.00001
NM_015295.3(SMCHD1):c.3519A>G (p.Ile1173Met) rs536643888 0.00001
NM_015295.3(SMCHD1):c.3891T>C (p.His1297=) rs758075470 0.00001
NM_015295.3(SMCHD1):c.4087C>G (p.Pro1363Ala) rs367680898 0.00001
NM_015295.3(SMCHD1):c.4226G>A (p.Arg1409His) rs746741499 0.00001
NM_015295.3(SMCHD1):c.4294A>G (p.Ser1432Gly) rs764323722 0.00001
NM_015295.3(SMCHD1):c.437C>T (p.Ala146Val) rs886043899 0.00001
NM_015295.3(SMCHD1):c.4894C>G (p.Gln1632Glu) rs1365539591 0.00001
NM_015295.3(SMCHD1):c.5175+3T>C rs751445777 0.00001
NM_015295.3(SMCHD1):c.5291A>G (p.Tyr1764Cys) rs1167815943 0.00001
NM_015295.3(SMCHD1):c.5396T>G (p.Leu1799Trp) rs1008517374 0.00001
NM_015295.3(SMCHD1):c.5502C>G (p.Thr1834=) rs886042412 0.00001
NM_015295.3(SMCHD1):c.55G>C (p.Asp19His) rs748596758 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.5937G>A (p.Thr1979=) rs776794549 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.953G>C (p.Ser318Thr) rs745495716 0.00001
NM_015295.3(SMCHD1):c.954C>T (p.Ser318=) rs769558309 0.00001
NM_015295.3(SMCHD1):c.994A>G (p.Ile332Val) rs748848954 0.00001
NM_015295.2(SMCHD1):c.2142dup (p.Ile715Tyrfs) rs1555635144
NM_015295.3(SMCHD1):c.1138A>G (p.Met380Val) rs752031550
NM_015295.3(SMCHD1):c.1164G>A (p.Lys388=) rs778279069
NM_015295.3(SMCHD1):c.1186C>T (p.Gln396Ter) rs377471712
NM_015295.3(SMCHD1):c.1197G>T (p.Met399Ile) rs1555632930
NM_015295.3(SMCHD1):c.120del (p.Asp42fs) rs1555622310
NM_015295.3(SMCHD1):c.121G>A (p.Gly41Arg) rs1555622312
NM_015295.3(SMCHD1):c.1421del (p.Cys474fs) rs886043188
NM_015295.3(SMCHD1):c.1473G>T (p.Trp491Cys) rs1568176024
NM_015295.3(SMCHD1):c.1487AGA[1] (p.Lys497del) rs886043345
NM_015295.3(SMCHD1):c.1566C>G (p.Ser522Arg) rs1555633547
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.1655G>A (p.Arg552Gln) rs886042392
NM_015295.3(SMCHD1):c.1672_1673del (p.Glu558fs) rs1568183325
NM_015295.3(SMCHD1):c.1768_1769delinsAA (p.Ser590Asn) rs886043386
NM_015295.3(SMCHD1):c.1810T>A (p.Trp604Arg) rs886042753
NM_015295.3(SMCHD1):c.1843-1G>A rs886043146
NM_015295.3(SMCHD1):c.1843-8_1843-5del rs765362255
NM_015295.3(SMCHD1):c.1848G>C (p.Lys616Asn) rs1568188312
NM_015295.3(SMCHD1):c.1867C>A (p.Leu623Ile) rs886042326
NM_015295.3(SMCHD1):c.1872_1873del (p.Phe624fs) rs1568188407
NM_015295.3(SMCHD1):c.1932A>G (p.Thr644=) rs930570856
NM_015295.3(SMCHD1):c.2147-4A>C rs777682119
NM_015295.3(SMCHD1):c.2261-21TTTCTTT[3] rs780684469
NM_015295.3(SMCHD1):c.2338G>A (p.Glu780Lys) rs886044357
NM_015295.3(SMCHD1):c.2458+3A>C rs1555638164
NM_015295.3(SMCHD1):c.2637A>C (p.Lys879Asn) rs633422
NM_015295.3(SMCHD1):c.2701-8del rs886044517
NM_015295.3(SMCHD1):c.2701-8dup rs886044517
NM_015295.3(SMCHD1):c.2818G>A (p.Val940Ile) rs779974698
NM_015295.3(SMCHD1):c.2914-8T>C rs886043095
NM_015295.3(SMCHD1):c.2T>G (p.Met1Arg) rs1555622203
NM_015295.3(SMCHD1):c.3024G>T (p.Thr1008=) rs781311866
NM_015295.3(SMCHD1):c.3197del (p.Met1066fs) rs1568261067
NM_015295.3(SMCHD1):c.319C>T (p.Leu107=) rs769766392
NM_015295.3(SMCHD1):c.3238_3239del (p.Glu1080fs) rs886043182
NM_015295.3(SMCHD1):c.3276_3276+4del rs1555642277
NM_015295.3(SMCHD1):c.3381A>G (p.Ser1127=) rs747331582
NM_015295.3(SMCHD1):c.3425+10C>A rs1555644115
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=) rs76290319
NM_015295.3(SMCHD1):c.3514+7A>G rs886044081
NM_015295.3(SMCHD1):c.3527_3528inv (p.Thr1176Met)
NM_015295.3(SMCHD1):c.3625A>G (p.Thr1209Ala) rs745810454
NM_015295.3(SMCHD1):c.3634-10dup rs763101269
NM_015295.3(SMCHD1):c.3634-1G>C rs886042282
NM_015295.3(SMCHD1):c.3715C>T (p.Arg1239Cys) rs771294371
NM_015295.3(SMCHD1):c.3718G>C (p.Glu1240Gln) rs886044366
NM_015295.3(SMCHD1):c.3801+1G>A rs886042417
NM_015295.3(SMCHD1):c.3838C>A (p.Pro1280Thr) rs1322896954
NM_015295.3(SMCHD1):c.4008-7_4008-3del rs760383946
NM_015295.3(SMCHD1):c.4135_4137delinsACG (p.Ala1379Thr) rs1568306321
NM_015295.3(SMCHD1):c.4153G>A (p.Gly1385Ser) rs774329481
NM_015295.3(SMCHD1):c.4153G>T (p.Gly1385Cys) rs774329481
NM_015295.3(SMCHD1):c.4166-1G>T rs886042327
NM_015295.3(SMCHD1):c.424+1G>A rs1555625396
NM_015295.3(SMCHD1):c.4282-5dup rs752013568
NM_015295.3(SMCHD1):c.4492C>T (p.Pro1498Ser) rs767117563
NM_015295.3(SMCHD1):c.4567-9dup rs772038791
NM_015295.3(SMCHD1):c.4633A>G (p.Asn1545Asp) rs886044429
NM_015295.3(SMCHD1):c.4638G>A (p.Glu1546=) rs1568336400
NM_015295.3(SMCHD1):c.4695C>T (p.Phe1565=) rs757300247
NM_015295.3(SMCHD1):c.4719+1G>A rs886044369
NM_015295.3(SMCHD1):c.4733_4736dup (p.Glu1579fs) rs1555651730
NM_015295.3(SMCHD1):c.4738A>G (p.Ser1580Gly) rs886044485
NM_015295.3(SMCHD1):c.4799dup (p.Leu1600fs) rs867598503
NM_015295.3(SMCHD1):c.4803A>G (p.Ser1601=) rs1568350613
NM_015295.3(SMCHD1):c.4827A>G (p.Leu1609=) rs774077792
NM_015295.3(SMCHD1):c.4847-6del rs763328487
NM_015295.3(SMCHD1):c.4879dup (p.Thr1627fs) rs886044257
NM_015295.3(SMCHD1):c.4898T>G (p.Leu1633Ter) rs886044419
NM_015295.3(SMCHD1):c.4915A>G (p.Met1639Val) rs1555651856
NM_015295.3(SMCHD1):c.495A>G (p.Ile165Met) rs1555626822
NM_015295.3(SMCHD1):c.5006G>T (p.Arg1669Leu) rs368367743
NM_015295.3(SMCHD1):c.5020del (p.Ile1674fs) rs886044129
NM_015295.3(SMCHD1):c.5038C>G (p.Pro1680Ala) rs769986044
NM_015295.3(SMCHD1):c.5072T>G (p.Leu1691Arg) rs886043181
NM_015295.3(SMCHD1):c.5127G>T (p.Ser1709=) rs371834462
NM_015295.3(SMCHD1):c.5175G>T (p.Lys1725Asn) rs763696893
NM_015295.3(SMCHD1):c.5253T>C (p.Cys1751=) rs1172138387
NM_015295.3(SMCHD1):c.5416G>A (p.Asp1806Asn) rs886044362
NM_015295.3(SMCHD1):c.5527G>A (p.Ala1843Thr) rs867875905
NM_015295.3(SMCHD1):c.5547+1G>C rs1555654127
NM_015295.3(SMCHD1):c.5568T>A (p.Cys1856Ter) rs1568383892
NM_015295.3(SMCHD1):c.5597G>A (p.Arg1866Gln) rs886044586
NM_015295.3(SMCHD1):c.5647A>G (p.Met1883Val) rs776598393
NM_015295.3(SMCHD1):c.5743G>T (p.Ala1915Ser) rs1568408187
NM_015295.3(SMCHD1):c.5757A>G (p.Leu1919=) rs886043263
NM_015295.3(SMCHD1):c.5804C>G (p.Thr1935Ser) rs886043895
NM_015295.3(SMCHD1):c.5878+9T>C rs1555658928
NM_015295.3(SMCHD1):c.5879-5_5894dup rs1282620693
NM_015295.3(SMCHD1):c.5894G>C (p.Arg1965Pro) rs755578313
NM_015295.3(SMCHD1):c.5923C>T (p.Pro1975Ser) rs886042874
NM_015295.3(SMCHD1):c.5958T>A (p.Pro1986=) rs886042374
NM_015295.3(SMCHD1):c.753+10_753+11del rs1167194316
NM_015295.3(SMCHD1):c.846A>G (p.Ile282Met) rs886044033
NM_015295.3(SMCHD1):c.853G>A (p.Gly285Arg) rs1568144816

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