ClinVar Miner

List of variants in gene MKS1 reported by Baylor Genetics

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_017777.4(MKS1):c.958G>A (p.Val320Ile) rs386834053 0.00002
NM_001165927.1(MKS1):c.32G>C (p.Arg11Pro) rs1312121495 0.00001
NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter) rs760971749 0.00001
NM_017777.4(MKS1):c.1095+1G>A rs747740477 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_017777.4(MKS1):c.1497del (p.Phe499fs) rs780161503 0.00001
NM_017777.4(MKS1):c.191-1G>A rs201362733 0.00001
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter) rs762482919 0.00001
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter) rs990955357 0.00001
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter) rs386834050 0.00001
NM_017777.4(MKS1):c.497G>A (p.Arg166Gln) rs1050543850 0.00001
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) rs756853299 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter) rs797045706 0.00001
NM_017777.4(MKS1):c.1025-2A>C rs794727070
NM_017777.4(MKS1):c.1045C>T (p.Gln349Ter)
NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter)
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1165+2T>C
NM_017777.4(MKS1):c.1166-2A>G rs1488635637
NM_017777.4(MKS1):c.119_126dup (p.Pro43fs)
NM_017777.4(MKS1):c.1203_1209delinsTCTCT (p.Leu404fs)
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter) rs781423785
NM_017777.4(MKS1):c.1274-2A>C
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.4(MKS1):c.1408-1dup rs762668200
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.4(MKS1):c.1447_1490+22del
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.1490+1G>A rs2143737350
NM_017777.4(MKS1):c.1491-4G>A rs1555596758
NM_017777.4(MKS1):c.1501G>T (p.Glu501Ter)
NM_017777.4(MKS1):c.171del (p.Phe57fs)
NM_017777.4(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.4(MKS1):c.190+1G>A
NM_017777.4(MKS1):c.259C>T (p.Gln87Ter)
NM_017777.4(MKS1):c.392_393del (p.Asp130_Ser131insTer) rs386834047
NM_017777.4(MKS1):c.417+1G>A rs756368560
NM_017777.4(MKS1):c.458C>A (p.Ser153Ter) rs903778224
NM_017777.4(MKS1):c.516-2A>G rs2143805609
NM_017777.4(MKS1):c.766del (p.Glu256fs)
NM_017777.4(MKS1):c.766dup (p.Glu256fs)
NM_017777.4(MKS1):c.805dup (p.Ser269fs) rs1320893771
NM_017777.4(MKS1):c.81_82del
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter) rs1555599412

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