ClinVar Miner

List of variants in gene RPGRIP1L studied for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.1805G>A (p.Arg602Gln) rs902687917 0.00004
NM_015272.5(RPGRIP1L):c.446C>T (p.Pro149Leu) rs1406955571 0.00001
NM_015272.5(RPGRIP1L):c.611C>A (p.Ala204Asp) rs769611947 0.00001
NM_015272.5(RPGRIP1L):c.1364A>G (p.Asn455Ser) rs1967458211
NM_015272.5(RPGRIP1L):c.872A>G (p.Gln291Arg)

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