ClinVar Miner

List of variants in gene MKS1 reported as pathogenic for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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NM_017777.3(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.3(MKS1):c.1208C>T (p.Ser403Leu) rs773684291
NM_017777.3(MKS1):c.1261C>T (p.Pro421Ser) rs863225210
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.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.3(MKS1):c.1528dup (p.Arg510fs) rs863225204
NM_017777.3(MKS1):c.1589-2A>T rs863225207
NM_017777.3(MKS1):c.233T>G (p.Ile78Ser) rs786204222
NM_017777.3(MKS1):c.262-179_262-37del rs1555600644
NM_017777.3(MKS1):c.381del (p.Tyr128fs) rs863225206
NM_017777.3(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_017777.3(MKS1):c.55G>T (p.Asp19Tyr) rs863225205
NM_017777.3(MKS1):c.767_768insC (p.Glu256fs) rs863225209
NM_017777.3(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.3(MKS1):c.950G>A (p.Gly317Glu) rs863225208

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