ClinVar Miner

List of variants in gene MKS1 reported as likely pathogenic for Joubert syndrome with ocular defect

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_017777.3(MKS1):c.1024+1G>A rs199874059
NM_017777.3(MKS1):c.1025-2A>C rs794727070
NM_017777.3(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.3(MKS1):c.1166-2A>G rs1488635637
NM_017777.3(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.3(MKS1):c.1408-2A>G rs1555596943
NM_017777.3(MKS1):c.1434_1462del (p.Arg479fs) rs1555596845
NM_017777.3(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.3(MKS1):c.190+2T>C rs375170572
NM_017777.3(MKS1):c.1A>G (p.Met1Val) rs1555601787
NM_017777.3(MKS1):c.367dup (p.Arg123fs) rs775043799
NM_017777.3(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_017777.3(MKS1):c.508C>T (p.Arg170Ter) rs756853299
NM_017777.3(MKS1):c.515+1G>A rs201933838
NM_017777.3(MKS1):c.515+2T>G rs1376664664
NM_017777.3(MKS1):c.51_55dup (p.Asp19fs) rs386834051
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
NM_017777.3(MKS1):c.858+1G>A rs756102768

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