ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome by Counsyl

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs) rs1554972400
NM_001173990.3(TMEM216):c.1A>G (p.Met1Val) rs1287246452
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys) rs1554972406
NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr) rs1554972406
NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG rs1554973024
NM_001173990.3(TMEM216):c.432-10delinsAA rs1554973021
NM_001173990.3(TMEM216):c.432-10delinsAC rs1554973021
NM_016499.5(TMEM216):c.155dup (p.Leu53fs) rs1554972964
NM_016499.5(TMEM216):c.47-9dup rs1554972934
NM_017777.3(MKS1):c.-34_-12del23 rs1244307754
NM_017777.3(MKS1):c.1063A>G (p.Thr355Ala) rs745809472
NM_017777.3(MKS1):c.1076_1078CCA[1] (p.Thr360del) rs1555598065
NM_017777.3(MKS1):c.110A>G (p.Asn37Ser) rs587779734
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_1314del (p.Thr430_Glu438del) rs1555597302
NM_017777.3(MKS1):c.1331_1345del (p.Glu444_Phe449delinsVal) rs1555597266
NM_017777.3(MKS1):c.1382A>G (p.Tyr461Cys) rs730882120
NM_017777.3(MKS1):c.1407+3_1407+5delGACinsAAT rs1555597194
NM_017777.3(MKS1):c.1476T>G (p.Cys492Trp) rs137853105
NM_017777.3(MKS1):c.1497del (p.Phe499fs) rs780161503
NM_017777.3(MKS1):c.1531_1534del (p.Ser511fs) rs1555596710
NM_017777.3(MKS1):c.1543C>T (p.Arg515Cys) rs775558298
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.1614del (p.Met539fs) rs1555596555
NM_017777.3(MKS1):c.1621G>T (p.Glu541Ter) rs1555596538
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.493C>T (p.Arg165Cys) rs779953982
NM_017777.3(MKS1):c.823_825GAG[5] (p.Glu278dup) rs780100856
NM_017777.3(MKS1):c.857A>G (p.Asp286Gly) rs151023718

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