ClinVar Miner

List of variants in gene SMCHD1 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 189
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 18p11.32(chr18:2690355-2776268)x3
NM_015295.2(SMCHD1):c.1031G>A (p.Arg344Gln) rs370983669
NM_015295.2(SMCHD1):c.1039G>A (p.Ala347Thr) rs776944618
NM_015295.2(SMCHD1):c.1086A>G (p.Ile362Met) rs201408220
NM_015295.2(SMCHD1):c.1138A>G (p.Met380Val) rs752031550
NM_015295.2(SMCHD1):c.1164G>A (p.Lys388=) rs778279069
NM_015295.2(SMCHD1):c.1186C>A (p.Gln396Lys) rs377471712
NM_015295.2(SMCHD1):c.1191C>T (p.Asp397=) rs535674229
NM_015295.2(SMCHD1):c.1197G>T (p.Met399Ile) rs1555632930
NM_015295.2(SMCHD1):c.121G>A (p.Gly41Arg) rs1555622312
NM_015295.2(SMCHD1):c.1290T>C (p.His430=) rs376328601
NM_015295.2(SMCHD1):c.130C>A (p.Pro44Thr) rs1271107369
NM_015295.2(SMCHD1):c.1390G>T (p.Ala464Ser) rs752328609
NM_015295.2(SMCHD1):c.1421del (p.Cys474fs) rs886043188
NM_015295.2(SMCHD1):c.1473G>T (p.Trp491Cys) rs1568176024
NM_015295.2(SMCHD1):c.1479T>C (p.Thr493=) rs755868793
NM_015295.2(SMCHD1):c.1487_1489AGA[1] (p.Lys497del) rs886043345
NM_015295.2(SMCHD1):c.150C>G (p.Arg50=) rs139872818
NM_015295.2(SMCHD1):c.1566C>G (p.Ser522Arg) rs1555633547
NM_015295.2(SMCHD1):c.1608A>G (p.Lys536=) rs72862973
NM_015295.2(SMCHD1):c.162G>A (p.Ala54=)
NM_015295.2(SMCHD1):c.162G>T (p.Ala54=) rs766395572
NM_015295.2(SMCHD1):c.1647+7T>A rs1339306673
NM_015295.2(SMCHD1):c.1655G>A (p.Arg552Gln) rs886042392
NM_015295.2(SMCHD1):c.1768_1769delinsAA (p.Ser590Asn) rs886043386
NM_015295.2(SMCHD1):c.1801G>T (p.Ala601Ser) rs886044519
NM_015295.2(SMCHD1):c.1810T>A (p.Trp604Arg) rs886042753
NM_015295.2(SMCHD1):c.1824A>G (p.Ile608Met)
NM_015295.2(SMCHD1):c.1843-8_1843-5delAATA rs765362255
NM_015295.2(SMCHD1):c.1848G>C (p.Lys616Asn) rs1568188312
NM_015295.2(SMCHD1):c.1867C>A (p.Leu623Ile) rs886042326
NM_015295.2(SMCHD1):c.1905C>T (p.Gly635=) rs770290837
NM_015295.2(SMCHD1):c.1932A>G (p.Thr644=) rs930570856
NM_015295.2(SMCHD1):c.1957-3C>T rs201069969
NM_015295.2(SMCHD1):c.1996A>G (p.Ile666Val) rs529127480
NM_015295.2(SMCHD1):c.2025G>A (p.Glu675=) rs766575963
NM_015295.2(SMCHD1):c.2064-9T>C
NM_015295.2(SMCHD1):c.2147-4A>C
NM_015295.2(SMCHD1):c.2151G>A (p.Ala717=) rs372945746
NM_015295.2(SMCHD1):c.2152T>C (p.Leu718=) rs112500113
NM_015295.2(SMCHD1):c.2261-13_2261-7dupTTCTTTT rs780684469
NM_015295.2(SMCHD1):c.2283T>C (p.Ile761=) rs773520979
NM_015295.2(SMCHD1):c.2289G>A (p.Ser763=) rs58683258
NM_015295.2(SMCHD1):c.2338G>A (p.Glu780Lys) rs886044357
NM_015295.2(SMCHD1):c.244A>G (p.Ile82Val) rs181045631
NM_015295.2(SMCHD1):c.2458+3A>C rs1555638164
NM_015295.2(SMCHD1):c.2507G>A (p.Arg836His) rs762661772
NM_015295.2(SMCHD1):c.2577T>C (p.Thr859=) rs1408054045
NM_015295.2(SMCHD1):c.2604-7T>C
NM_015295.2(SMCHD1):c.2606G>T (p.Gly869Val)
NM_015295.2(SMCHD1):c.2612C>A (p.Ser871Tyr) rs372975122
NM_015295.2(SMCHD1):c.2637A>C (p.Lys879Asn) rs633422
NM_015295.2(SMCHD1):c.263A>G (p.Asp88Gly) rs200521548
NM_015295.2(SMCHD1):c.2660G>C (p.Gly887Ala) rs1460743863
NM_015295.2(SMCHD1):c.2701-8T>C rs1324600079
NM_015295.2(SMCHD1):c.2701-8delT rs886044517
NM_015295.2(SMCHD1):c.2701-8dup rs886044517
NM_015295.2(SMCHD1):c.279T>G (p.Asp93Glu) rs201466122
NM_015295.2(SMCHD1):c.2818G>A (p.Val940Ile) rs779974698
NM_015295.2(SMCHD1):c.2838T>C (p.Ala946=) rs375251871
NM_015295.2(SMCHD1):c.288C>T (p.Thr96=) rs369550628
NM_015295.2(SMCHD1):c.2914-8T>C rs886043095
NM_015295.2(SMCHD1):c.2T>G (p.Met1Arg) rs1555622203
NM_015295.2(SMCHD1):c.3024G>T (p.Thr1008=)
NM_015295.2(SMCHD1):c.3047C>T (p.Pro1016Leu) rs528154864
NM_015295.2(SMCHD1):c.306G>A (p.Ser102=) rs7229488
NM_015295.2(SMCHD1):c.319C>T (p.Leu107=) rs769766392
NM_015295.2(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340
NM_015295.2(SMCHD1):c.3245A>G (p.Asn1082Ser) rs756368420
NM_015295.2(SMCHD1):c.3251C>T (p.Thr1084Ile) rs371392245
NM_015295.2(SMCHD1):c.3277-5C>T rs542259388
NM_015295.2(SMCHD1):c.3312G>C (p.Leu1104Phe) rs886042340
NM_015295.2(SMCHD1):c.3340G>A (p.Val1114Ile) rs778206654
NM_015295.2(SMCHD1):c.3381A>G (p.Ser1127=) rs747331582
NM_015295.2(SMCHD1):c.3414G>A (p.Ala1138=) rs778892054
NM_015295.2(SMCHD1):c.3425+10C>A rs1555644115
NM_015295.2(SMCHD1):c.3444T>A (p.Pro1148=) rs76290319
NM_015295.2(SMCHD1):c.3514+4A>G
NM_015295.2(SMCHD1):c.3514+7A>G rs886044081
NM_015295.2(SMCHD1):c.3527C>T (p.Thr1176Ile) rs553452960
NM_015295.2(SMCHD1):c.3527_3528inv (p.Thr1176Met) rs886042310
NM_015295.2(SMCHD1):c.3606T>C (p.Asp1202=) rs539377223
NM_015295.2(SMCHD1):c.3625A>G (p.Thr1209Ala)
NM_015295.2(SMCHD1):c.3633+10C>T rs368857612
NM_015295.2(SMCHD1):c.3633+7C>T rs200391083
NM_015295.2(SMCHD1):c.3634-10dupT rs763101269
NM_015295.2(SMCHD1):c.3634-1G>C rs886042282
NM_015295.2(SMCHD1):c.3636A>G (p.Glu1212=) rs372008124
NM_015295.2(SMCHD1):c.3715C>T (p.Arg1239Cys) rs771294371
NM_015295.2(SMCHD1):c.3718G>C (p.Glu1240Gln) rs886044366
NM_015295.2(SMCHD1):c.3769C>T (p.Leu1257Phe) rs766226383
NM_015295.2(SMCHD1):c.37T>G (p.Ser13Ala) rs751463286
NM_015295.2(SMCHD1):c.3838C>A (p.Pro1280Thr) rs1322896954
NM_015295.2(SMCHD1):c.3841A>G (p.Ile1281Val) rs201059575
NM_015295.2(SMCHD1):c.3868G>T (p.Asp1290Tyr) rs146798599
NM_015295.2(SMCHD1):c.3891T>C (p.His1297=) rs758075470
NM_015295.2(SMCHD1):c.4008-7_4008-3delTTGTT rs760383946
NM_015295.2(SMCHD1):c.4040A>G (p.Tyr1347Cys) rs774156694
NM_015295.2(SMCHD1):c.4087C>G (p.Pro1363Ala) rs367680898
NM_015295.2(SMCHD1):c.40G>A (p.Val14Met) rs559283578
NM_015295.2(SMCHD1):c.4105G>A (p.Val1369Ile) rs375198512
NM_015295.2(SMCHD1):c.4109G>A (p.Arg1370His) rs185137363
NM_015295.2(SMCHD1):c.4135G>A (p.Ala1379Thr)
NM_015295.2(SMCHD1):c.4135_4137delinsACG (p.Ala1379Thr) rs1568306321
NM_015295.2(SMCHD1):c.4153G>A (p.Gly1385Ser) rs774329481
NM_015295.2(SMCHD1):c.4153G>T (p.Gly1385Cys) rs774329481
NM_015295.2(SMCHD1):c.4161C>T (p.Phe1387=)
NM_015295.2(SMCHD1):c.4166-1G>T rs886042327
NM_015295.2(SMCHD1):c.4178G>C (p.Ser1393Thr) rs369758530
NM_015295.2(SMCHD1):c.4226G>A (p.Arg1409His)
NM_015295.2(SMCHD1):c.424+10C>T rs201631086
NM_015295.2(SMCHD1):c.4255A>G (p.Thr1419Ala) rs191487554
NM_015295.2(SMCHD1):c.4282-5dup rs752013568
NM_015295.2(SMCHD1):c.4294A>G (p.Ser1432Gly) rs764323722
NM_015295.2(SMCHD1):c.4306A>G (p.Ile1436Val) rs371280641
NM_015295.2(SMCHD1):c.4320C>T (p.Asp1440=) rs374154803
NM_015295.2(SMCHD1):c.437C>T (p.Ala146Val) rs886043899
NM_015295.2(SMCHD1):c.4461A>G (p.Gln1487=)
NM_015295.2(SMCHD1):c.4492C>T (p.Pro1498Ser) rs767117563
NM_015295.2(SMCHD1):c.4567-9dupT rs772038791
NM_015295.2(SMCHD1):c.4598T>C (p.Leu1533Ser) rs368255259
NM_015295.2(SMCHD1):c.4599G>T (p.Leu1533Phe) rs770018521
NM_015295.2(SMCHD1):c.4633A>G (p.Asn1545Asp) rs886044429
NM_015295.2(SMCHD1):c.4638G>A (p.Glu1546=) rs1568336400
NM_015295.2(SMCHD1):c.4695C>T (p.Phe1565=) rs757300247
NM_015295.2(SMCHD1):c.4696G>A (p.Val1566Met)
NM_015295.2(SMCHD1):c.4719+1G>A rs886044369
NM_015295.2(SMCHD1):c.4738A>G (p.Ser1580Gly) rs886044485
NM_015295.2(SMCHD1):c.473G>A (p.Arg158His) rs531460906
NM_015295.2(SMCHD1):c.4783C>G (p.Pro1595Ala)
NM_015295.2(SMCHD1):c.4786C>T (p.Arg1596Trp) rs746646525
NM_015295.2(SMCHD1):c.4787G>A (p.Arg1596Gln) rs770649222
NM_015295.2(SMCHD1):c.4803A>G (p.Ser1601=) rs1568350613
NM_015295.2(SMCHD1):c.4827A>G (p.Leu1609=) rs774077792
NM_015295.2(SMCHD1):c.4894C>G (p.Gln1632Glu) rs1365539591
NM_015295.2(SMCHD1):c.4912G>A (p.Val1638Ile) rs370473143
NM_015295.2(SMCHD1):c.4915A>G (p.Met1639Val) rs1555651856
NM_015295.2(SMCHD1):c.495A>G (p.Ile165Met) rs1555626822
NM_015295.2(SMCHD1):c.5006G>A (p.Arg1669Gln) rs368367743
NM_015295.2(SMCHD1):c.5006G>T (p.Arg1669Leu) rs368367743
NM_015295.2(SMCHD1):c.5024A>G (p.His1675Arg) rs201071071
NM_015295.2(SMCHD1):c.5038C>G (p.Pro1680Ala) rs769986044
NM_015295.2(SMCHD1):c.5046A>G (p.Thr1682=) rs886043784
NM_015295.2(SMCHD1):c.5072T>G (p.Leu1691Arg) rs886043181
NM_015295.2(SMCHD1):c.5126C>T (p.Ser1709Leu) rs151311806
NM_015295.2(SMCHD1):c.5127G>T (p.Ser1709=)
NM_015295.2(SMCHD1):c.5155A>G (p.Ser1719Gly) rs201221497
NM_015295.2(SMCHD1):c.5175+3T>C rs751445777
NM_015295.2(SMCHD1):c.5175G>T (p.Lys1725Asn) rs763696893
NM_015295.2(SMCHD1):c.5253T>C (p.Cys1751=) rs1172138387
NM_015295.2(SMCHD1):c.5291A>G (p.Tyr1764Cys) rs1167815943
NM_015295.2(SMCHD1):c.5396T>G (p.Leu1799Trp)
NM_015295.2(SMCHD1):c.5411T>C (p.Ile1804Thr) rs370249291
NM_015295.2(SMCHD1):c.5416G>A (p.Asp1806Asn) rs886044362
NM_015295.2(SMCHD1):c.5478A>G (p.Val1826=) rs886043464
NM_015295.2(SMCHD1):c.5502C>G (p.Thr1834=) rs886042412
NM_015295.2(SMCHD1):c.5526G>A (p.Ala1842=)
NM_015295.2(SMCHD1):c.5527G>A (p.Ala1843Thr) rs867875905
NM_015295.2(SMCHD1):c.5597G>A (p.Arg1866Gln) rs886044586
NM_015295.2(SMCHD1):c.55G>C (p.Asp19His) rs748596758
NM_015295.2(SMCHD1):c.5625C>T (p.Gly1875=) rs886044408
NM_015295.2(SMCHD1):c.5647A>G (p.Met1883Val) rs776598393
NM_015295.2(SMCHD1):c.5743G>T (p.Ala1915Ser) rs1568408187
NM_015295.2(SMCHD1):c.5757A>G (p.Leu1919=) rs886043263
NM_015295.2(SMCHD1):c.5787A>G (p.Gln1929=) rs369084979
NM_015295.2(SMCHD1):c.5804C>G (p.Thr1935Ser) rs886043895
NM_015295.2(SMCHD1):c.5878+8T>G rs144115061
NM_015295.2(SMCHD1):c.5878+9T>C rs1555658928
NM_015295.2(SMCHD1):c.5879-5_5894dup rs1555658996
NM_015295.2(SMCHD1):c.5887C>G (p.Pro1963Ala) rs1345578577
NM_015295.2(SMCHD1):c.5894G>C (p.Arg1965Pro) rs755578313
NM_015295.2(SMCHD1):c.5907C>G (p.Asp1969Glu) rs553815732
NM_015295.2(SMCHD1):c.5914C>T (p.Arg1972Cys)
NM_015295.2(SMCHD1):c.5923C>T (p.Pro1975Ser) rs886042874
NM_015295.2(SMCHD1):c.5937G>A (p.Thr1979=) rs776794549
NM_015295.2(SMCHD1):c.5958T>A (p.Pro1986=) rs886042374
NM_015295.2(SMCHD1):c.6005A>C (p.Lys2002Thr) rs959328
NM_015295.2(SMCHD1):c.63A>G (p.Gly21=) rs772718353
NM_015295.2(SMCHD1):c.744A>G (p.Gln248=)
NM_015295.2(SMCHD1):c.753+10_753+11delAA rs1167194316
NM_015295.2(SMCHD1):c.789C>T (p.His263=) rs374899324
NM_015295.2(SMCHD1):c.846A>G (p.Ile282Met) rs886044033
NM_015295.2(SMCHD1):c.853G>A (p.Gly285Arg) rs1568144816
NM_015295.2(SMCHD1):c.90G>A (p.Leu30=) rs1555622278
NM_015295.2(SMCHD1):c.920A>G (p.His307Arg) rs755508169
NM_015295.2(SMCHD1):c.953G>C (p.Ser318Thr) rs745495716
NM_015295.2(SMCHD1):c.954C>T (p.Ser318=)
NM_015295.2(SMCHD1):c.985C>A (p.Pro329Thr) rs145233420
NM_015295.2(SMCHD1):c.994A>G (p.Ile332Val) rs748848954

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.