ClinVar Miner

List of variants in gene PRPH2 reported as likely pathogenic by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp) rs61754402 0.00018
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp) rs759011231 0.00003
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000322.5(PRPH2):c.419A>G (p.Tyr140Cys) rs1761910060 0.00001
NM_000322.5(PRPH2):c.634A>C (p.Ser212Arg) rs61755800 0.00001
NM_000322.5(PRPH2):c.2T>C (p.Met1Thr) rs121918565
NM_000322.5(PRPH2):c.318del (p.Leu107fs) rs1761913048
NM_000322.5(PRPH2):c.421T>C (p.Tyr141His) rs61755780
NM_000322.5(PRPH2):c.442G>T (p.Gly148Cys)
NM_000322.5(PRPH2):c.457A>C (p.Lys153Gln)
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg) rs61755785
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) rs61755787
NM_000322.5(PRPH2):c.469G>T (p.Asp157Tyr)
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly) rs61755796
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln) rs121918567
NM_000322.5(PRPH2):c.593G>C (p.Ser198Thr) rs1800118213
NM_000322.5(PRPH2):c.626T>A (p.Val209Asp) rs1220783333
NM_000322.5(PRPH2):c.629C>T (p.Pro210Leu) rs61755798
NM_000322.5(PRPH2):c.633C>G (p.Phe211Leu) rs61755799
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly) rs61755800
NM_000322.5(PRPH2):c.635G>A (p.Ser212Asn)
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000322.5(PRPH2):c.646C>G (p.Pro216Ala) rs61755805
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.662C>T (p.Pro221Leu) rs973931180
NM_000322.5(PRPH2):c.721G>C (p.Glu241Gln)
NM_000322.5(PRPH2):c.745G>A (p.Gly249Ser) rs2152005248
NM_000322.5(PRPH2):c.748T>C (p.Cys250Arg) rs1064793931
NM_000322.5(PRPH2):c.802G>A (p.Val268Ile) rs62645936
NM_000322.5(PRPH2):c.809T>C (p.Leu270Pro) rs2152005198
NM_000322.5(PRPH2):c.829-3_829-1del rs2152003876
NM_000322.5(PRPH2):c.851G>A (p.Arg284His)

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