ClinVar Miner

List of variants in gene RPGRIP1L reported by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098 0.00031
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser) rs202124667 0.00008
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) rs759935029 0.00004
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr) rs973841786 0.00003
NM_015272.5(RPGRIP1L):c.1063C>T (p.Arg355Trp)
NM_015272.5(RPGRIP1L):c.1904A>G (p.Tyr635Cys)
NM_015272.5(RPGRIP1L):c.3448C>A (p.Arg1150=) rs750930363
NM_015272.5(RPGRIP1L):c.667G>C (p.Glu223Gln)

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