ClinVar Miner

List of variants in gene PRPH2 reported as uncertain significance for not provided

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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) rs61755770 0.00414
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu) rs62645939 0.00079
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813 0.00062
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434 0.00044
NM_000322.5(PRPH2):c.75G>C (p.Trp25Cys) rs146686238 0.00024
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000322.5(PRPH2):c.1015G>A (p.Ala339Thr) rs760687443 0.00018
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.44A>G (p.Lys15Arg) rs555112175 0.00006
NM_000322.5(PRPH2):c.791C>G (p.Ser264Cys) rs768210586 0.00006
NM_000322.5(PRPH2):c.888C>T (p.Pro296=) rs183714869 0.00005
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.454A>G (p.Met152Val) rs146703538 0.00002
NM_000322.5(PRPH2):c.937C>T (p.Pro313Ser) rs746742888 0.00002
NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu) rs139329966 0.00002
NM_000322.5(PRPH2):c.21G>T (p.Lys7Asn) rs1582781191 0.00001
NM_000322.5(PRPH2):c.250G>A (p.Asp84Asn) rs368257452 0.00001
NM_000322.5(PRPH2):c.253G>A (p.Ala85Thr) rs760311433 0.00001
NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser) rs140227298 0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806 0.00001
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly) rs767471467 0.00001
NM_000322.5(PRPH2):c.*847_*850del rs1299464577
NM_000322.5(PRPH2):c.1005G>A (p.Glu335=) rs1011239238
NM_000322.5(PRPH2):c.1009G>A (p.Ala337Thr) rs955930526
NM_000322.5(PRPH2):c.1016C>G (p.Ala339Gly) rs886043500
NM_000322.5(PRPH2):c.116T>C (p.Leu39Pro) rs2152011095
NM_000322.5(PRPH2):c.122T>C (p.Leu41Pro) rs2152011091
NM_000322.5(PRPH2):c.148G>C (p.Asp50His) rs747987442
NM_000322.5(PRPH2):c.198_202delinsAAGACACA (p.Met67_Gly68delinsArgHisArg) rs63749073
NM_000322.5(PRPH2):c.199_201del (p.Met67del) rs61755773
NM_000322.5(PRPH2):c.215G>C (p.Cys72Ser) rs375090109
NM_000322.5(PRPH2):c.303C>T (p.Tyr101=) rs61755776
NM_000322.5(PRPH2):c.401T>C (p.Leu134Pro) rs1761910745
NM_000322.5(PRPH2):c.403A>G (p.Lys135Glu) rs1761910611
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp) rs527236097
NM_000322.5(PRPH2):c.457A>G (p.Lys153Glu) rs2152010930
NM_000322.5(PRPH2):c.458A>C (p.Lys153Thr) rs61755785
NM_000322.5(PRPH2):c.460A>C (p.Lys154Gln) rs1190438836
NM_000322.5(PRPH2):c.483C>G (p.Ile161Met) rs76989855
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr) rs786205579
NM_000322.5(PRPH2):c.521G>C (p.Trp174Ser) rs1761906296
NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys) rs1064793237
NM_000322.5(PRPH2):c.540C>G (p.Ile180Met) rs2152010881
NM_000322.5(PRPH2):c.556G>A (p.Asp186Asn) rs2152010859
NM_000322.5(PRPH2):c.557A>T (p.Asp186Val) rs2152010856
NM_000322.5(PRPH2):c.581+4dup rs2152010845
NM_000322.5(PRPH2):c.586A>T (p.Ile196Phe) rs2152005413
NM_000322.5(PRPH2):c.593G>C (p.Ser198Thr) rs1800118213
NM_000322.5(PRPH2):c.595A>G (p.Asn199Asp) rs757988141
NM_000322.5(PRPH2):c.610T>C (p.Tyr204His) rs997283737
NM_000322.5(PRPH2):c.614T>C (p.Leu205Pro) rs1800117244
NM_000322.5(PRPH2):c.617T>C (p.Val206Ala) rs1064797323
NM_000322.5(PRPH2):c.620A>G (p.Asp207Gly) rs1800116925
NM_000322.5(PRPH2):c.623_625dup (p.Gly208dup) rs2152005366
NM_000322.5(PRPH2):c.633C>G (p.Phe211Leu) rs61755799
NM_000322.5(PRPH2):c.643A>C (p.Asn215His) rs2152005339
NM_000322.5(PRPH2):c.652T>C (p.Ser218Pro) rs1582764878
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu) rs986748364
NM_000322.5(PRPH2):c.661C>T (p.Pro221Ser)
NM_000322.5(PRPH2):c.662C>T (p.Pro221Leu) rs973931180
NM_000322.5(PRPH2):c.664T>A (p.Cys222Ser) rs1554269053
NM_000322.5(PRPH2):c.665G>C (p.Cys222Ser) rs1442844778
NM_000322.5(PRPH2):c.690C>G (p.Asn230Lys) rs1800113439
NM_000322.5(PRPH2):c.695C>T (p.Ala232Val) rs1800113364
NM_000322.5(PRPH2):c.709G>A (p.Asp237Asn)
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly) rs542296728
NM_000322.5(PRPH2):c.737G>C (p.Trp246Ser) rs1582764697
NM_000322.5(PRPH2):c.754G>C (p.Ala252Pro) rs1203189231
NM_000322.5(PRPH2):c.770A>G (p.Tyr257Cys)
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.829-4C>G rs1582759785
NM_000322.5(PRPH2):c.857T>C (p.Leu286Pro) rs2152003871
NM_000322.5(PRPH2):c.863C>A (p.Thr288Lys) rs1016933713
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp) rs61748432
NM_000322.5(PRPH2):c.930G>C (p.Arg310Ser)
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu) rs1582759492

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