ClinVar Miner

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

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Total variants: 47
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HGVS dbSNP
NM_015295.2(SMCHD1):c.1164G>A (p.Lys388=) rs778279069
NM_015295.2(SMCHD1):c.1191C>T (p.Asp397=) rs535674229
NM_015295.2(SMCHD1):c.1290T>C (p.His430=) rs376328601
NM_015295.2(SMCHD1):c.1479T>C (p.Thr493=) rs755868793
NM_015295.2(SMCHD1):c.1608A>G (p.Lys536=) rs72862973
NM_015295.2(SMCHD1):c.1957-3C>T rs201069969
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.2289G>A (p.Ser763=) rs58683258
NM_015295.2(SMCHD1):c.279T>G (p.Asp93Glu) rs201466122
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.2913+6C>G rs186678728
NM_015295.2(SMCHD1):c.3277-5C>T rs542259388
NM_015295.2(SMCHD1):c.333G>A (p.Thr111=) rs761171049
NM_015295.2(SMCHD1):c.3414G>A (p.Ala1138=) rs778892054
NM_015295.2(SMCHD1):c.3444T>A (p.Pro1148=) rs76290319
NM_015295.2(SMCHD1):c.3633+10_3633+16del rs1555644751
NM_015295.2(SMCHD1):c.4161C>T (p.Phe1387=) rs553970445
NM_015295.2(SMCHD1):c.4320C>T (p.Asp1440=) rs374154803
NM_015295.2(SMCHD1):c.5127G>T (p.Ser1709=) rs371834462
NM_015295.2(SMCHD1):c.5478A>G (p.Val1826=) rs886043464
NM_015295.2(SMCHD1):c.5625C>T (p.Gly1875=) rs886044408
NM_015295.2(SMCHD1):c.5646A>C (p.Pro1882=) rs557482877
NM_015295.2(SMCHD1):c.5878+8T>G rs144115061
NM_015295.2(SMCHD1):c.789C>T (p.His263=) rs374899324
NM_015295.2(SMCHD1):c.985C>A (p.Pro329Thr) rs145233420
NM_015295.3(SMCHD1):c.1329A>G (p.Pro443=) rs374141580
NM_015295.3(SMCHD1):c.1464-7G>C rs1347095679
NM_015295.3(SMCHD1):c.1932A>T (p.Thr644=) rs930570856
NM_015295.3(SMCHD1):c.1947A>G (p.Gln649=) rs201805227
NM_015295.3(SMCHD1):c.2261-7T>C rs1598360357
NM_015295.3(SMCHD1):c.2353T>C (p.Leu785=) rs371760133
NM_015295.3(SMCHD1):c.2433T>G (p.Ser811=) rs760899591
NM_015295.3(SMCHD1):c.2520A>G (p.Pro840=) rs1445022098
NM_015295.3(SMCHD1):c.3451T>C (p.Leu1151=) rs759659672
NM_015295.3(SMCHD1):c.3732T>C (p.Phe1244=) rs765602142
NM_015295.3(SMCHD1):c.3804C>T (p.Ser1268=) rs1598399244
NM_015295.3(SMCHD1):c.3948G>A (p.Gln1316=) rs776456103
NM_015295.3(SMCHD1):c.4007+7A>G rs763769769
NM_015295.3(SMCHD1):c.408A>G (p.Glu136=) rs1057519643
NM_015295.3(SMCHD1):c.4119T>G (p.Val1373=) rs780548113
NM_015295.3(SMCHD1):c.4443T>C (p.Val1481=) rs369643056
NM_015295.3(SMCHD1):c.5053-10T>A rs1598429596
NM_015295.3(SMCHD1):c.5127G>A (p.Ser1709=) rs371834462
NM_015295.3(SMCHD1):c.5476+9_5476+10inv
NM_015295.3(SMCHD1):c.630C>T (p.Asp210=) rs778017141

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