ClinVar Miner

List of variants studied for Joubert syndrome with renal defect by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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NM_000272.4(NPHP1):c.1333C>T (p.Arg445Cys) rs375907280
NM_000272.4(NPHP1):c.232T>C (p.Tyr78His) rs140446520
NM_000272.4(NPHP1):c.971T>C (p.Met324Thr) rs114250691
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile) rs79524027
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala) rs201131571
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met) rs367845452
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923

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