ClinVar Miner

List of variants in gene MKS1 reported as pathogenic for Meckel syndrome, type 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_017777.3(MKS1):c.1024+1G>A rs199874059
NM_017777.3(MKS1):c.1066C>T (p.Gln356Ter) rs786205508
NM_017777.3(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.3(MKS1):c.1387C>G (p.Arg463Gly)
NM_017777.3(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.3(MKS1):c.1411dup rs762668200
NM_017777.3(MKS1):c.233T>G (p.Ile78Ser) rs786204222
NM_017777.3(MKS1):c.261+2T>A rs886039803
NM_017777.3(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_017777.3(MKS1):c.50_54dup (p.Asp19fs) rs730880323
NM_017777.3(MKS1):c.515+1G>A rs201933838
NM_017777.3(MKS1):c.645-2A>T
NM_017777.3(MKS1):c.80+2T>C rs386834052
NM_017777.3(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.3(MKS1):c.844C>T (p.Arg282Ter) rs797045706

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