ClinVar Miner

List of variants in gene MKS1 reported as likely pathogenic by Invitae

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.496C>T (p.Arg166Trp) rs201845154 0.00034
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_017777.4(MKS1):c.1095+1G>A rs747740477 0.00001
NM_017777.4(MKS1):c.1096-1G>C rs1401015954 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_017777.4(MKS1):c.81-1G>A rs12942386 0.00001
NM_017777.4(MKS1):c.1025-2A>G
NM_017777.4(MKS1):c.1095+2T>C rs2143756871
NM_017777.4(MKS1):c.1166-1G>C rs776174898
NM_017777.4(MKS1):c.1166-2A>G rs1488635637
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.1274-2A>C
NM_017777.4(MKS1):c.1399_1407+4del rs2143742869
NM_017777.4(MKS1):c.1407+1G>A rs1567795088
NM_017777.4(MKS1):c.1408-2_1408-1del
NM_017777.4(MKS1):c.1489_1490+18delinsGCTTGCACTGTCTGCAGCAG
NM_017777.4(MKS1):c.1490+1G>A rs2143737350
NM_017777.4(MKS1):c.1490+1G>T
NM_017777.4(MKS1):c.1522_1638del117 (p.Arg508_Leu546del)
NM_017777.4(MKS1):c.1589-2A>G
NM_017777.4(MKS1):c.1589-2A>T rs863225207
NM_017777.4(MKS1):c.190+1G>A
NM_017777.4(MKS1):c.516-2A>G rs2143805609
NM_017777.4(MKS1):c.528_644+12del
NM_017777.4(MKS1):c.81-2A>G
NM_017777.4(MKS1):c.81-2A>T rs756709080
NM_017777.4(MKS1):c.858+1G>A rs756102768
NM_017777.4(MKS1):c.859-2A>C
NM_017777.4(MKS1):c.859-2A>T
NM_017777.4(MKS1):c.959-1G>A
NM_017777.4(MKS1):c.959-2A>G rs1273591389

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