ClinVar Miner

List of variants in gene PRPH2 reported as uncertain significance by GeneDx

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu) rs62645939 0.00079
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp) rs61754402 0.00018
NM_000322.5(PRPH2):c.781C>T (p.Leu261Phe) rs150381599 0.00011
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn) rs747893076 0.00004
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln) rs554945964 0.00003
NM_000322.5(PRPH2):c.250G>A (p.Asp84Asn) rs368257452 0.00001
NM_000322.5(PRPH2):c.911A>C (p.Gln304Pro) rs750796514 0.00001
NM_000322.5(PRPH2):c.215G>C (p.Cys72Ser) rs375090109
NM_000322.5(PRPH2):c.403A>G (p.Lys135Glu) rs1761910611
NM_000322.5(PRPH2):c.457A>G (p.Lys153Glu) rs2152010930
NM_000322.5(PRPH2):c.614T>C (p.Leu205Pro) rs1800117244
NM_000322.5(PRPH2):c.621C>A (p.Asp207Glu)
NM_000322.5(PRPH2):c.661C>T (p.Pro221Ser)
NM_000322.5(PRPH2):c.665G>C (p.Cys222Ser) rs1442844778
NM_000322.5(PRPH2):c.671A>C (p.Gln224Pro)
NM_000322.5(PRPH2):c.695C>T (p.Ala232Val) rs1800113364
NM_000322.5(PRPH2):c.698A>G (p.His233Arg) rs1800113326
NM_000322.5(PRPH2):c.743G>A (p.Arg248His)
NM_000322.5(PRPH2):c.806C>G (p.Thr269Arg) rs781212034
NM_000322.5(PRPH2):c.823T>C (p.Phe275Leu) rs1359326125
NM_000322.5(PRPH2):c.910_911delinsGT (p.Gln304Val)

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