ClinVar Miner

List of variants in gene RPE65 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 15
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HGVS dbSNP
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.11+5G>A rs61751276
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040
NM_000329.3(RPE65):c.1496C>T (p.Pro499Leu) rs1557595139
NM_000329.3(RPE65):c.149_150del (p.Leu49_Phe50insTer) rs886042807
NM_000329.3(RPE65):c.168A>G (p.Pro56=) rs150260489
NM_000329.3(RPE65):c.331C>T (p.Pro111Ser) rs886042220
NM_000329.3(RPE65):c.449A>G (p.Asn150Ser)
NM_000329.3(RPE65):c.675C>G (p.Ile225Met) rs114379164
NM_000329.3(RPE65):c.793C>T (p.Leu265Phe) rs1457086571
NM_000329.3(RPE65):c.80C>T (p.Thr27Ile) rs794727245
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901
NM_000329.3(RPE65):c.94+10G>A
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907

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