ClinVar Miner

List of variants studied for Joubert syndrome with ocular defect by Counsyl

Included ClinVar conditions (7):
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Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP
NM_017777.3(MKS1):c.-34_-12del23 rs1244307754
NM_017777.3(MKS1):c.1024+1G>A rs199874059
NM_017777.3(MKS1):c.1025-2A>C rs794727070
NM_017777.3(MKS1):c.1063A>G (p.Thr355Ala) rs745809472
NM_017777.3(MKS1):c.1079_1081delCCA (p.Thr360del) rs1555598065
NM_017777.3(MKS1):c.110A>G (p.Asn37Ser) rs587779734
NM_017777.3(MKS1):c.1115_1117delCCT (p.Ser372del) rs754279998
NM_017777.3(MKS1):c.1166-2A>G rs1488635637
NM_017777.3(MKS1):c.1175C>T (p.Pro392Leu) rs763534380
NM_017777.3(MKS1):c.1268C>T (p.Thr423Ile) rs760184188
NM_017777.3(MKS1):c.1288_1314del27 (p.Thr430_Glu438del) rs1555597302
NM_017777.3(MKS1):c.1331_1345del15 (p.Glu444_Phe449delinsVal) rs1555597266
NM_017777.3(MKS1):c.1382A>G (p.Tyr461Cys) rs730882120
NM_017777.3(MKS1):c.1394delC (p.Pro465Glnfs) rs865870355
NM_017777.3(MKS1):c.1407+3_1407+5delGACinsAAT rs1555597194
NM_017777.3(MKS1):c.1408-2A>G rs1555596943
NM_017777.3(MKS1):c.1408-34_1408-6del29 rs386834043
NM_017777.3(MKS1):c.1434_1462del29 (p.Arg479Profs) rs1555596845
NM_017777.3(MKS1):c.1476T>G (p.Cys492Trp) rs137853105
NM_017777.3(MKS1):c.1497delC (p.Phe499Leufs) rs780161503
NM_017777.3(MKS1):c.1531_1534delAGTG (p.Ser511Cysfs) rs1555596710
NM_017777.3(MKS1):c.1543C>T (p.Arg515Cys) rs775558298
NM_017777.3(MKS1):c.1588+12C>G rs762501967
NM_017777.3(MKS1):c.1600C>A (p.Arg534=) rs772719574
NM_017777.3(MKS1):c.1600C>T (p.Arg534Ter) rs772719574
NM_017777.3(MKS1):c.1609C>T (p.Arg537Cys) rs35464956
NM_017777.3(MKS1):c.1614delC (p.Met539Cysfs) rs1555596555
NM_017777.3(MKS1):c.1621G>T (p.Glu541Ter) rs1555596538
NM_017777.3(MKS1):c.184_190delACTGCCA (p.Thr62Valfs) 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.214G>A (p.Glu72Lys) rs753620277
NM_017777.3(MKS1):c.233T>G (p.Ile78Ser) rs786204222
NM_017777.3(MKS1):c.367dupC (p.Arg123Profs) rs775043799
NM_017777.3(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_017777.3(MKS1):c.493C>T (p.Arg165Cys) rs779953982
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_55dupCCGGG (p.Asp19Alafs) rs386834051
NM_017777.3(MKS1):c.771G>A (p.Lys257=) rs886038632
NM_017777.3(MKS1):c.80+14C>G rs761061379
NM_017777.3(MKS1):c.80+2T>C rs386834052
NM_017777.3(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.3(MKS1):c.832_834dup (p.Glu278_Arg279insGlu) rs780100856
NM_017777.3(MKS1):c.844C>T (p.Arg282Ter) rs797045706
NM_017777.3(MKS1):c.857A>G (p.Asp286Gly) rs151023718
NM_017777.3(MKS1):c.858+1G>A rs756102768

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