ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome with ocular defect by Baylor Genetics

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00005
NM_001128178.3(NPHP1):c.729-2A>G rs773781058 0.00002
NM_001128178.3(NPHP1):c.143+1G>C rs745806504 0.00001
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter) rs1311042980 0.00001
NM_001128178.3(NPHP1):c.329+1G>A rs376974221 0.00001
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter) rs753517219 0.00001
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter) rs2080804101
NM_001128178.3(NPHP1):c.1064_1067del (p.Cys355fs)
NM_001128178.3(NPHP1):c.1083+1G>A
NM_001128178.3(NPHP1):c.1084-2A>C
NM_001128178.3(NPHP1):c.1157del (p.Gln386fs)
NM_001128178.3(NPHP1):c.1190del (p.Gly397fs)
NM_001128178.3(NPHP1):c.1270-2A>G
NM_001128178.3(NPHP1):c.1271C>G (p.Ser424Ter)
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)
NM_001128178.3(NPHP1):c.1305G>A (p.Trp435Ter)
NM_001128178.3(NPHP1):c.1323del (p.Phe441fs)
NM_001128178.3(NPHP1):c.1352+2T>G
NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs) rs2104483923
NM_001128178.3(NPHP1):c.139C>T (p.Gln47Ter)
NM_001128178.3(NPHP1):c.141_143+40del
NM_001128178.3(NPHP1):c.1431_1432insTACCA (p.His478fs)
NM_001128178.3(NPHP1):c.144-1G>A
NM_001128178.3(NPHP1):c.151C>T (p.Gln51Ter)
NM_001128178.3(NPHP1):c.1643-1G>C
NM_001128178.3(NPHP1):c.1643-2A>G
NM_001128178.3(NPHP1):c.1717-1dup
NM_001128178.3(NPHP1):c.1724G>A (p.Trp575Ter)
NM_001128178.3(NPHP1):c.1767_1770del (p.Asp589fs)
NM_001128178.3(NPHP1):c.1897_1906del (p.Thr633fs)
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001128178.3(NPHP1):c.69+1G>T
NM_001128178.3(NPHP1):c.69+1del
NM_001128178.3(NPHP1):c.724C>T (p.Gln242Ter)
NM_001128178.3(NPHP1):c.738_739del (p.His247fs)
NM_001128178.3(NPHP1):c.771+124C>T
NM_001128178.3(NPHP1):c.771+58C>T
NM_001128178.3(NPHP1):c.842C>G (p.Ser281Ter)
NM_001128178.3(NPHP1):c.935G>A (p.Trp312Ter)
NM_001128178.3(NPHP1):c.958del (p.Arg320fs)
NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)

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