ClinVar Miner

List of variants in gene RPGRIP1L reported by Baylor Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647 0.00085
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met) rs367845452 0.00009
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg) rs201413825 0.00004
NM_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile) rs151174849 0.00003
NM_015272.5(RPGRIP1L):c.3220+17A>C rs1204073957 0.00001
NM_015272.5(RPGRIP1L):c.1499C>A (p.Ala500Glu) rs1029054579
NM_015272.5(RPGRIP1L):c.1505A>T (p.His502Leu) rs976110882
NM_015272.5(RPGRIP1L):c.2581_2582insG (p.Leu861fs) rs1966500186
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs) rs1200131247

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