ClinVar Miner

List of variants in gene MKS1 reported as pathogenic for not provided

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter) rs386834050 0.00001
NM_017777.4(MKS1):c.1025-2A>C rs794727070
NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter) rs786205508
NM_017777.4(MKS1):c.1249del (p.Ala417fs) rs1567796331
NM_017777.4(MKS1):c.1277C>G (p.Ser426Ter) rs2143744820
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.261+2T>A rs886039803

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