ClinVar Miner

List of variants in gene PRPH2 reported as uncertain significance by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434 0.00044
NM_000322.5(PRPH2):c.517G>A (p.Asp173Asn) rs1582780487
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.652T>C (p.Ser218Pro) rs1582764878
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu) rs1582759492

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