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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HGVS dbSNP
NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) rs754279998
NM_001165927.1(MKS1):c.1178C>T (p.Ser393Leu) rs773684291
NM_001165927.1(MKS1):c.1231C>T (p.Pro411Ser) rs863225210
NM_001165927.1(MKS1):c.1357C>G (p.Arg453Gly) rs766392300
NM_001165927.1(MKS1):c.1378-1dup rs762668200
NM_001165927.1(MKS1):c.1378-34_1378-6del rs386834043
NM_001165927.1(MKS1):c.1420_1423dup (p.Thr475fs) rs386834044
NM_001165927.1(MKS1):c.1498dup (p.Arg500fs) rs863225204
NM_001165927.1(MKS1):c.1559-2A>T rs863225207
NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser) rs786204222
NM_001165927.1(MKS1):c.232-179_232-37del rs1555600644
NM_001165927.1(MKS1):c.351del (p.Tyr118fs) rs863225206
NM_001165927.1(MKS1):c.387G>A (p.Glu129=) rs386834048
NM_001165927.1(MKS1):c.50+286G>T rs863225205
NM_001165927.1(MKS1):c.615-2A>T rs773036963
NM_001165927.1(MKS1):c.737_738insC (p.Glu246fs) rs863225209
NM_001165927.1(MKS1):c.799G>T (p.Glu267Ter) rs1555599412
NM_001165927.1(MKS1):c.920G>A (p.Gly307Glu) rs863225208

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