ClinVar Miner

List of variants in gene SMCHD1 reported as pathogenic

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Total variants: 49
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HGVS dbSNP
NM_015295.2(SMCHD1):c.1030C>T (p.Arg344Ter) rs886041918
NM_015295.2(SMCHD1):c.1034A>G (p.Gln345Arg) rs1057519639
NM_015295.2(SMCHD1):c.1040+1G>A rs1245372794
NM_015295.2(SMCHD1):c.1043A>G (p.His348Arg) rs1057519640
NM_015295.2(SMCHD1):c.1186C>T (p.Gln396Ter)
NM_015295.2(SMCHD1):c.1199A>T (p.Gln400Leu) rs1057519642
NM_015295.2(SMCHD1):c.120del (p.Asp42fs) rs1555622310
NM_015295.2(SMCHD1):c.1259A>T (p.Asp420Val) rs1135402742
NM_015295.2(SMCHD1):c.1302_1306del (p.Tyr434_Arg436delinsTer) rs387907319
NM_015295.2(SMCHD1):c.1417G>C (p.Glu473Gln) rs1135402743
NM_015295.2(SMCHD1):c.1568C>A (p.Thr523Lys) rs1135402744
NM_015295.2(SMCHD1):c.1571A>G (p.Asn524Ser) rs1135402745
NM_015295.2(SMCHD1):c.1580C>T (p.Thr527Met) rs397518422
NM_015295.2(SMCHD1):c.1608del (p.Asp537fs) rs1057519614
NM_015295.2(SMCHD1):c.1655G>A (p.Arg552Gln) rs886042392
NM_015295.2(SMCHD1):c.1670_1671GA[1] (p.Glu558fs) rs1568183325
NM_015295.2(SMCHD1):c.1843-1G>A rs886043146
NM_015295.2(SMCHD1):c.1872_1873del (p.Phe624fs) rs1568188407
NM_015295.2(SMCHD1):c.2068C>T (p.Pro690Ser) rs397514623
NM_015295.2(SMCHD1):c.2142dup (p.Ile715Tyrfs) rs1555635144
NM_015295.2(SMCHD1):c.3197del (p.Met1066fs) rs1568261067
NM_015295.2(SMCHD1):c.320T>C (p.Leu107Pro) rs1135402737
NM_015295.2(SMCHD1):c.3236_3237GA[1] (p.Glu1080fs) rs886043182
NM_015295.2(SMCHD1):c.3276_3276+4delAGTAA rs1555642277
NM_015295.2(SMCHD1):c.3484C>T (p.Gln1162Ter) rs1555644339
NM_015295.2(SMCHD1):c.3801+1G>A rs886042417
NM_015295.2(SMCHD1):c.386T>A (p.Met129Lys) rs1135402738
NM_015295.2(SMCHD1):c.403A>T (p.Ser135Cys) rs1057519645
NM_015295.2(SMCHD1):c.404G>A (p.Ser135Asn) rs1057519646
NM_015295.2(SMCHD1):c.404G>T (p.Ser135Ile) rs1057519646
NM_015295.2(SMCHD1):c.408A>C (p.Glu136Asp) rs1057519643
NM_015295.2(SMCHD1):c.4104del (p.Val1369fs) rs1555647265
NM_015295.2(SMCHD1):c.410G>A (p.Gly137Glu) rs1057519644
NM_015295.2(SMCHD1):c.415A>C (p.Asn139His) rs1135402739
NM_015295.2(SMCHD1):c.423G>C (p.Leu141Phe) rs1057519641
NM_015295.2(SMCHD1):c.423G>T (p.Leu141Phe) rs1057519641
NM_015295.2(SMCHD1):c.424+1G>A rs1555625396
NM_015295.2(SMCHD1):c.4459C>T (p.Gln1487Ter)
NM_015295.2(SMCHD1):c.4566G>A (p.Thr1522=)
NM_015295.2(SMCHD1):c.4733_4736dup (p.Glu1579fs) rs1555651730
NM_015295.2(SMCHD1):c.4799dup (p.Leu1600fs) rs867598503
NM_015295.2(SMCHD1):c.4821dup (p.Ile1608fs) rs1568350731
NM_015295.2(SMCHD1):c.4898T>G (p.Leu1633Ter) rs886044419
NM_015295.2(SMCHD1):c.5020del (p.Ile1674fs) rs886044129
NM_015295.2(SMCHD1):c.511T>G (p.Phe171Val) rs1135402740
NM_015295.2(SMCHD1):c.5547+1G>C rs1555654127
NM_015295.2(SMCHD1):c.725C>G (p.Ala242Gly) rs1135402741
NM_015295.2(SMCHD1):c.848A>G (p.Tyr283Cys) rs886041921
SMCHD1, IVS29DS, G-A, +1

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