ClinVar Miner

List of variants in gene MKS1 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_001165927.1(MKS1):c.1036C>T (p.Gln346Ter) rs786205508
NM_001165927.1(MKS1):c.1082_1084del (p.Phe361del) rs587777804
NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) rs754279998
NM_001165927.1(MKS1):c.1352A>G (p.Tyr451Cys) rs730882120
NM_001165927.1(MKS1):c.1357C>G (p.Arg453Gly) rs766392300
NM_001165927.1(MKS1):c.1378-1dup rs762668200
NM_001165927.1(MKS1):c.1378-34_1378-6del rs386834043
NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp) rs137853105
NM_001165927.1(MKS1):c.1571G>A (p.Arg524Gln) rs199910690
NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser) rs786204222
NM_001165927.1(MKS1):c.231+2T>A rs886039803
NM_001165927.1(MKS1):c.387G>A (p.Glu129=) rs386834048
NM_001165927.1(MKS1):c.485+1G>A rs201933838
NM_001165927.1(MKS1):c.50+281_50+285dup rs730880323
NM_001165927.1(MKS1):c.50+313T>C rs386834052
NM_001165927.1(MKS1):c.615-2A>T rs773036963
NM_001165927.1(MKS1):c.799G>T (p.Glu267Ter) rs1555599412
NM_001165927.1(MKS1):c.814C>T (p.Arg272Ter) rs797045706
NM_001165927.1(MKS1):c.994+1G>A rs199874059

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