ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome 1 by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NC_000011.10:g.(?_61393874)_(61398286_?)del
NC_000012.12:g.(?_88058838)_(88061004_?)dup
NC_000016.10:g.(?_53656472)_(53687965_?)del
NM_001080522.2(CC2D2A):c.3183-1G>T
NM_001080522.2(CC2D2A):c.3975+4_3975+7del rs386833759
NM_001080522.2(CC2D2A):c.438+1G>A
NM_001082538.3(TCTN1):c.713-2A>G
NM_001134831.2(AHI1):c.2106G>A (p.Thr702=) rs1276908141
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_001134831.2(AHI1):c.2623+1G>A
NM_001134831.2(AHI1):c.749+1G>C
NM_001142301.1(TMEM67):c.1531-6_1531-3inv
NM_001165927.1(MKS1):c.160+2T>C rs375170572
NM_001165927.1(MKS1):c.387+1G>A rs756368560
NM_001165927.1(MKS1):c.485+1G>A rs201933838
NM_001173990.3(TMEM216):c.137-1G>A rs1554972547
NM_001173990.3(TMEM216):c.230-2A>G
NM_001173990.3(TMEM216):c.34+2T>C rs1057517498
NM_001378615.1(CC2D2A):c.247+1G>A
NM_001378615.1(CC2D2A):c.2625G>A (p.Ser875=)
NM_001378615.1(CC2D2A):c.4066-1G>A
NM_003611.3(OFD1):c.2261-6C>G rs769923969
NM_003611.3(OFD1):c.312+1G>T rs1569102786
NM_015272.5(RPGRIP1L):c.1244-1G>T
NM_015272.5(RPGRIP1L):c.230+1G>A rs786204135
NM_015272.5(RPGRIP1L):c.3616+1G>A
NM_015272.5(RPGRIP1L):c.3616+2del
NM_015272.5(RPGRIP1L):c.3617-2A>G rs781683750
NM_015272.5(RPGRIP1L):c.776+1G>A
NM_015272.5(RPGRIP1L):c.883-2A>G rs1598375731
NM_017777.4(MKS1):c.1407+1G>A
NM_017777.4(MKS1):c.959-2A>G
NM_019892.6(INPP5E):c.1565G>C (p.Gly522Ala) rs771866500
NM_019892.6(INPP5E):c.1922del (p.Cys641fs) rs1431917892
NM_025114.4(CEP290):c.1523-1G>T rs1192112844
NM_025114.4(CEP290):c.1623+1G>A rs863225186
NM_025114.4(CEP290):c.1712-2A>T
NM_025114.4(CEP290):c.251-2A>G
NM_025114.4(CEP290):c.3461+1G>A rs766952056
NM_025114.4(CEP290):c.3573+2T>C
NM_025114.4(CEP290):c.4030-2A>G
NM_025114.4(CEP290):c.4437+1G>A rs760915898
NM_025114.4(CEP290):c.4438-3del rs747323414
NM_025114.4(CEP290):c.4813-2A>G rs369523378
NM_025114.4(CEP290):c.5012+2T>C rs1369768287
NM_025114.4(CEP290):c.5709+1G>A
NM_025114.4(CEP290):c.6271-6_6274del
NM_025114.4(CEP290):c.6358-1G>A rs766670248
NM_025114.4(CEP290):c.6645+1G>A rs201218801
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs)
NM_025114.4(CEP290):c.942+1G>C
NM_030578.4(B9D2):c.156_163del (p.Asp53fs) rs786204189
NM_153704.6(TMEM67):c.2128A>G (p.Met710Val) rs112261772

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