ClinVar Miner

List of variants in gene PRPH2 reported as uncertain significance for PRPH2-related disorder

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Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.830T>G (p.Val277Gly) rs140406696 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.146G>C (p.Ser49Thr) rs146844134 0.00012
NM_000322.5(PRPH2):c.842T>C (p.Ile281Thr) rs146659849 0.00009
NM_000322.5(PRPH2):c.791C>G (p.Ser264Cys) rs768210586 0.00006
NM_000322.5(PRPH2):c.923T>A (p.Leu308Gln) rs762660751 0.00006
NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn) rs747893076 0.00004
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp) rs759011231 0.00003
NM_000322.5(PRPH2):c.946T>G (p.Trp316Gly) rs202230698 0.00003
NM_000322.5(PRPH2):c.1001C>T (p.Ala334Val) rs903826110 0.00002
NM_000322.5(PRPH2):c.409G>A (p.Gly137Ser) rs781256236 0.00002
NM_000322.5(PRPH2):c.464C>T (p.Thr155Ile) rs199572514 0.00002
NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu) rs139329966 0.00002
NM_000322.5(PRPH2):c.1003G>A (p.Glu335Lys) rs1166310608 0.00001
NM_000322.5(PRPH2):c.1027C>T (p.Pro343Ser) rs771868894 0.00001
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.299C>T (p.Pro100Leu) rs768400169 0.00001
NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu) rs772861671 0.00001
NM_000322.5(PRPH2):c.431C>A (p.Thr144Lys) rs1380413370 0.00001
NM_000322.5(PRPH2):c.468C>G (p.Ile156Met) rs761275918 0.00001
NM_000322.5(PRPH2):c.508G>A (p.Gly170Ser) rs61755791 0.00001
NM_000322.5(PRPH2):c.511T>A (p.Phe171Ile) rs200876455 0.00001
NM_000322.5(PRPH2):c.547C>T (p.Arg183Cys) rs755449912 0.00001
NM_000322.5(PRPH2):c.751A>G (p.Arg251Gly) rs772701367 0.00001
NM_000322.5(PRPH2):c.767G>A (p.Ser256Asn) rs980783693 0.00001
NM_000322.5(PRPH2):c.800T>C (p.Val267Ala) rs1009889150 0.00001
NM_000322.5(PRPH2):c.826G>A (p.Glu276Lys) rs751900290 0.00001
NM_000322.5(PRPH2):c.828+6C>T rs564177869 0.00001
NM_000322.5(PRPH2):c.904G>A (p.Glu302Lys) rs61748430 0.00001
NM_000322.5(PRPH2):c.911A>C (p.Gln304Pro) rs750796514 0.00001
NM_000322.5(PRPH2):c.98T>C (p.Ile33Thr) rs767850825 0.00001
NC_000006.11:g.(?_42689472)_(42690072_?)dup
NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs) rs1799984208
NM_000322.5(PRPH2):c.1013_1018del (p.Asp338_Ala339del)
NM_000322.5(PRPH2):c.1015_1020dup (p.Ala339_Gly340dup) rs1332561329
NM_000322.5(PRPH2):c.1020C>T (p.Gly340=) rs2152003768
NM_000322.5(PRPH2):c.1024G>A (p.Ala342Thr) rs1799983757
NM_000322.5(PRPH2):c.1033G>C (p.Ala345Pro) rs1220298682
NM_000322.5(PRPH2):c.122T>C (p.Leu41Pro) rs2152011091
NM_000322.5(PRPH2):c.137G>A (p.Arg46Gln)
NM_000322.5(PRPH2):c.139A>G (p.Lys47Glu) rs1562434309
NM_000322.5(PRPH2):c.148G>A (p.Asp50Asn)
NM_000322.5(PRPH2):c.171C>G (p.Ser57Arg) rs1761917045
NM_000322.5(PRPH2):c.181C>T (p.Pro61Ser)
NM_000322.5(PRPH2):c.215G>C (p.Cys72Ser) rs375090109
NM_000322.5(PRPH2):c.245G>T (p.Cys82Phe)
NM_000322.5(PRPH2):c.252C>A (p.Asp84Glu) rs139936445
NM_000322.5(PRPH2):c.265G>A (p.Ala89Thr)
NM_000322.5(PRPH2):c.274G>A (p.Ala92Thr)
NM_000322.5(PRPH2):c.286C>T (p.Pro96Ser)
NM_000322.5(PRPH2):c.292C>A (p.Leu98Met) rs1417128552
NM_000322.5(PRPH2):c.314G>A (p.Cys105Tyr) rs2152010992
NM_000322.5(PRPH2):c.326A>G (p.Asn109Ser)
NM_000322.5(PRPH2):c.346G>C (p.Ala116Pro) rs140227298
NM_000322.5(PRPH2):c.347C>A (p.Ala116Asp) rs1365796838
NM_000322.5(PRPH2):c.397G>A (p.Gly133Arg) rs768473101
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.412A>T (p.Met138Leu) rs771068866
NM_000322.5(PRPH2):c.413T>C (p.Met138Thr) rs1761910137
NM_000322.5(PRPH2):c.440C>A (p.Pro147His) rs2152010934
NM_000322.5(PRPH2):c.445A>G (p.Arg149Gly)
NM_000322.5(PRPH2):c.45G>T (p.Lys15Asn) rs1761920330
NM_000322.5(PRPH2):c.461A>G (p.Lys154Arg)
NM_000322.5(PRPH2):c.476T>G (p.Leu159Arg) rs1761907993
NM_000322.5(PRPH2):c.484G>C (p.Glu162Gln)
NM_000322.5(PRPH2):c.498C>G (p.Cys166Trp) rs759752477
NM_000322.5(PRPH2):c.4G>A (p.Ala2Thr) rs1424831291
NM_000322.5(PRPH2):c.527A>T (p.Glu176Val) rs1761906163
NM_000322.5(PRPH2):c.530T>C (p.Ile177Thr) rs748478593
NM_000322.5(PRPH2):c.542G>T (p.Ser181Ile)
NM_000322.5(PRPH2):c.548G>A (p.Arg183His) rs960152679
NM_000322.5(PRPH2):c.561T>A (p.Phe187Leu)
NM_000322.5(PRPH2):c.563C>T (p.Ser188Phe)
NM_000322.5(PRPH2):c.568A>G (p.Lys190Glu) rs1761905174
NM_000322.5(PRPH2):c.580G>C (p.Asp194His)
NM_000322.5(PRPH2):c.581+5G>T rs2152010844
NM_000322.5(PRPH2):c.581+6T>A rs1761904652
NM_000322.5(PRPH2):c.581+6T>C
NM_000322.5(PRPH2):c.582T>A (p.Asp194Glu) rs1331346375
NM_000322.5(PRPH2):c.583C>G (p.Arg195Gly) rs1322278463
NM_000322.5(PRPH2):c.584G>C (p.Arg195Pro) rs121918567
NM_000322.5(PRPH2):c.596A>G (p.Asn199Ser) rs2152005399
NM_000322.5(PRPH2):c.5C>T (p.Ala2Val)
NM_000322.5(PRPH2):c.608G>A (p.Arg203Gln)
NM_000322.5(PRPH2):c.610T>C (p.Tyr204His) rs997283737
NM_000322.5(PRPH2):c.611A>G (p.Tyr204Cys)
NM_000322.5(PRPH2):c.614T>C (p.Leu205Pro) rs1800117244
NM_000322.5(PRPH2):c.619_654dup (p.Ser218_Pro219insAspGlyValProPheSerCysCysAsnProSerSer)
NM_000322.5(PRPH2):c.620A>G (p.Asp207Gly) rs1800116925
NM_000322.5(PRPH2):c.621C>A (p.Asp207Glu)
NM_000322.5(PRPH2):c.649A>T (p.Ser217Cys)
NM_000322.5(PRPH2):c.655C>T (p.Pro219Ser)
NM_000322.5(PRPH2):c.670C>A (p.Gln224Lys) rs2152005304
NM_000322.5(PRPH2):c.674A>G (p.Tyr225Cys)
NM_000322.5(PRPH2):c.677A>G (p.Gln226Arg)
NM_000322.5(PRPH2):c.680T>C (p.Ile227Thr)
NM_000322.5(PRPH2):c.681C>G (p.Ile227Met) rs1800113865
NM_000322.5(PRPH2):c.685AAC[1] (p.Asn230del) rs2152005289
NM_000322.5(PRPH2):c.698A>G (p.His233Arg) rs1800113326
NM_000322.5(PRPH2):c.69G>A (p.Met23Ile) rs779326874
NM_000322.5(PRPH2):c.700T>C (p.Tyr234His)
NM_000322.5(PRPH2):c.701A>G (p.Tyr234Cys)
NM_000322.5(PRPH2):c.703A>G (p.Ser235Gly)
NM_000322.5(PRPH2):c.721GAG[3] (p.Glu242dup) rs1800112015
NM_000322.5(PRPH2):c.740T>C (p.Val247Ala)
NM_000322.5(PRPH2):c.746G>A (p.Gly249Asp)
NM_000322.5(PRPH2):c.758C>A (p.Ala253Asp) rs2152005234
NM_000322.5(PRPH2):c.763C>A (p.Leu255Met) rs1800110915
NM_000322.5(PRPH2):c.769T>C (p.Tyr257His)
NM_000322.5(PRPH2):c.770A>G (p.Tyr257Cys)
NM_000322.5(PRPH2):c.776_777insTCT (p.Ser259_Ser260insLeu) rs2152005221
NM_000322.5(PRPH2):c.782T>C (p.Leu261Pro) rs2152005217
NM_000322.5(PRPH2):c.794T>A (p.Met265Lys) rs1582764600
NM_000322.5(PRPH2):c.794T>C (p.Met265Thr) rs1582764600
NM_000322.5(PRPH2):c.795G>C (p.Met265Ile) rs1377914950
NM_000322.5(PRPH2):c.802G>A (p.Val268Ile) rs62645936
NM_000322.5(PRPH2):c.802G>C (p.Val268Leu) rs62645936
NM_000322.5(PRPH2):c.802G>T (p.Val268Phe) rs62645936
NM_000322.5(PRPH2):c.803T>C (p.Val268Ala)
NM_000322.5(PRPH2):c.806C>G (p.Thr269Arg) rs781212034
NM_000322.5(PRPH2):c.811C>T (p.Leu271Phe)
NM_000322.5(PRPH2):c.821T>G (p.Leu274Arg)
NM_000322.5(PRPH2):c.823T>C (p.Phe275Leu) rs1359326125
NM_000322.5(PRPH2):c.826G>C (p.Glu276Gln) rs751900290
NM_000322.5(PRPH2):c.828+3A>G rs281865373
NM_000322.5(PRPH2):c.828+5G>A
NM_000322.5(PRPH2):c.828+5G>T
NM_000322.5(PRPH2):c.828G>C (p.Glu276Asp)
NM_000322.5(PRPH2):c.829-1G>A rs1582759782
NM_000322.5(PRPH2):c.829-1_835del
NM_000322.5(PRPH2):c.829-3C>G rs1799990150
NM_000322.5(PRPH2):c.82G>A (p.Val28Met)
NM_000322.5(PRPH2):c.835A>C (p.Ile279Leu) rs773951621
NM_000322.5(PRPH2):c.851G>C (p.Arg284Pro) rs962365465
NM_000322.5(PRPH2):c.863C>T (p.Thr288Met) rs1016933713
NM_000322.5(PRPH2):c.910C>A (p.Gln304Lys)
NM_000322.5(PRPH2):c.911A>G (p.Gln304Arg)
NM_000322.5(PRPH2):c.912_913insAGCGAG (p.Gln304_Gly305insSerGlu) rs1377137374
NM_000322.5(PRPH2):c.920T>C (p.Leu307Pro) rs2152003843
NM_000322.5(PRPH2):c.928_929delinsGA (p.Arg310Glu)
NM_000322.5(PRPH2):c.92G>T (p.Gly31Val) rs886061404
NM_000322.5(PRPH2):c.932G>C (p.Ser311Thr)
NM_000322.5(PRPH2):c.933C>A (p.Ser311Arg)
NM_000322.5(PRPH2):c.934G>A (p.Val312Met)
NM_000322.5(PRPH2):c.938C>A (p.Pro313Gln) rs61748434
NM_000322.5(PRPH2):c.970AAG[1] (p.Lys325del)
NM_000322.5(PRPH2):c.975G>C (p.Lys325Asn) rs756613766
NM_000322.5(PRPH2):c.989A>G (p.Asn330Ser)
NM_000322.5(PRPH2):c.994G>A (p.Val332Met) rs1799985104

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