ClinVar Miner

List of variants in gene RPGR reported as uncertain significance by Invitae

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Gene type:
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Total variants: 10
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HGVS dbSNP
NM_000328.2(RPGR):c.-168-?_*456+?dup
NM_000328.3(RPGR):c.1245+6A>G rs886038281
NM_000328.3(RPGR):c.1398G>A (p.Met466Ile)
NM_000328.3(RPGR):c.1624G>A (p.Asp542Asn)
NM_000328.3(RPGR):c.1630A>G (p.Ser544Gly) rs878853953
NM_000328.3(RPGR):c.1680_1682ACA[1] (p.Gln561del) rs1208778002
NM_000328.3(RPGR):c.1749A>G (p.Glu583=) rs1060501179
NM_000328.3(RPGR):c.1826A>G (p.Asn609Ser) rs1555961989
NM_000328.3(RPGR):c.1909C>G (p.His637Asp)
NM_000328.3(RPGR):c.452C>T (p.Thr151Ile) rs1060501180

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