ClinVar Miner

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

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_001165927.1(MKS1):c.1104A>G (p.Glu368=) rs77365082
NM_001165927.1(MKS1):c.1145C>T (p.Pro382Leu) rs763534380
NM_001165927.1(MKS1):c.1202G>A (p.Arg401His)
NM_001165927.1(MKS1):c.1384C>G (p.Arg462Gly)
NM_001165927.1(MKS1):c.1505T>C (p.Val502Ala) rs1567794194
NM_001165927.1(MKS1):c.1513C>T (p.Arg505Cys) rs775558298
NM_001165927.1(MKS1):c.169C>T (p.Arg57Cys) rs200340896
NM_001165927.1(MKS1):c.284A>C (p.Tyr95Ser) rs1440792737
NM_001165927.1(MKS1):c.338G>A (p.Arg113Gln) rs202112856
NM_001165927.1(MKS1):c.341G>A (p.Arg114Gln) rs765026950
NM_001165927.1(MKS1):c.439G>A (p.Glu147Lys) rs200970148
NM_001165927.1(MKS1):c.50+295C>A rs1031187314
NM_001165927.1(MKS1):c.514G>A (p.Val172Ile) rs200185068
NM_001165927.1(MKS1):c.665G>C (p.Ser222Thr)
NM_001165927.1(MKS1):c.71C>T (p.Thr24Ile) rs759465861
NM_001165927.1(MKS1):c.733G>C (p.Gly245Arg) rs201237547
NM_001165927.1(MKS1):c.757T>C (p.Tyr253His)
NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly) rs151023718
NM_001165927.1(MKS1):c.874G>A (p.Asp292Asn) rs750025608
NM_001165927.1(MKS1):c.98C>G (p.Pro33Arg) rs1311306088

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