ClinVar Miner

List of variants studied for Joubert syndrome with renal defect by UW Hindbrain Malformation Research Program,University of Washington

Included ClinVar conditions (4):
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Total variants: 12
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HGVS dbSNP
2q13 deletion
NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs) rs863225217
NM_015272.5(RPGRIP1L):c.1243+1G>A rs863225218
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) rs778149316
NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs) rs863225216
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro) rs267607020
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204
NM_015272.5(RPGRIP1L):c.2305-1G>A rs863225215
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) rs145665129
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter) rs778533826
NM_015272.5(RPGRIP1L):c.3701+1G>T rs863225219

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