ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome with renal defect by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204
NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro) rs121918200
NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs) rs387906243
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) rs121918197
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter) rs121918199
NPHP1, DEL
RPGRIP1L, 1-BP DEL, 1721A

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