ClinVar Miner

List of variants in gene MKS1 studied for Bardet-Biedl syndrome 13

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Total variants: 9
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HGVS dbSNP
NM_001165927.1(MKS1):c.1082_1084del (p.Phe361del) rs587777804
NM_001165927.1(MKS1):c.1178C>T (p.Ser393Leu) rs773684291
NM_001165927.1(MKS1):c.1352A>G (p.Tyr451Cys) rs730882120
NM_001165927.1(MKS1):c.1364del (p.Pro455fs) rs865870355
NM_001165927.1(MKS1):c.1420_1423dup (p.Thr475fs) rs386834044
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.337dup (p.Arg113fs) rs775043799
NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly) rs151023718

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