ClinVar Miner

List of variants reported as pathogenic for PRPH2-Related Disorders

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Total variants: 195
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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.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771 0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys) rs779414078 0.00001
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro) rs121918563 0.00001
NM_000322.5(PRPH2):c.634A>C (p.Ser212Arg) rs61755800 0.00001
NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr) rs61755803 0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806 0.00001
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln) rs61755810 0.00001
NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe) rs61755766 0.00001
NM_000322.5(PRPH2):c.828+3A>T rs281865373 0.00001
NC_000006.11:g.(?_42666033)_(42666265_?)del
NC_000006.11:g.(?_42666033)_(42672369_?)del
NC_000006.11:g.(?_42666033)_(42690072_?)del
NC_000006.11:g.(?_42672083)_(42672369_?)del
NC_000006.11:g.(?_42689472)_(42690072_?)del
NC_000006.11:g.(?_42689492)_(42690072_?)del
NC_000006.12:g.(?_42704365)_(42704611_?)del
NM_000322.5(PRPH2):c.113del (p.Gly38fs) rs61755769
NM_000322.5(PRPH2):c.121del (p.Phe40_Leu41insTer)
NM_000322.5(PRPH2):c.141_222del (p.Arg48fs) rs2152011045
NM_000322.5(PRPH2):c.148del (p.Asp50fs) rs1761917626
NM_000322.5(PRPH2):c.163del (p.Ser55fs) rs1761917286
NM_000322.5(PRPH2):c.178del (p.Val60fs) rs2152011068
NM_000322.5(PRPH2):c.198_202delinsAAGACACA (p.Met67_Gly68delinsArgHisArg) rs63749073
NM_000322.5(PRPH2):c.1A>T (p.Met1Leu) rs1761921867
NM_000322.5(PRPH2):c.202G>A (p.Gly68Arg) rs61755774
NM_000322.5(PRPH2):c.205del (p.Val69fs) rs1761916286
NM_000322.5(PRPH2):c.205dup (p.Val69fs) rs1761916286
NM_000322.5(PRPH2):c.208_217dup (p.Val73fs) rs2152011046
NM_000322.5(PRPH2):c.227C>A (p.Ser76Ter) rs1203908646
NM_000322.5(PRPH2):c.228del (p.Leu77fs) rs2152011039
NM_000322.5(PRPH2):c.237dup (p.Lys80fs) rs1761915366
NM_000322.5(PRPH2):c.238A>T (p.Lys80Ter)
NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter) rs1242862941
NM_000322.5(PRPH2):c.249C>A (p.Tyr83Ter)
NM_000322.5(PRPH2):c.259_266del (p.Asp87fs) rs1554270834
NM_000322.5(PRPH2):c.269_270del (p.Lys90fs) rs2152011015
NM_000322.5(PRPH2):c.282_286dup (p.Pro96fs) rs2152011005
NM_000322.5(PRPH2):c.288del (p.Trp97fs)
NM_000322.5(PRPH2):c.290G>A (p.Trp97Ter) rs1761913693
NM_000322.5(PRPH2):c.2T>C (p.Met1Thr) rs121918565
NM_000322.5(PRPH2):c.302del (p.Tyr101fs) rs2152011002
NM_000322.5(PRPH2):c.303C>A (p.Tyr101Ter)
NM_000322.5(PRPH2):c.310_313del (p.Ile104fs) rs1761913253
NM_000322.5(PRPH2):c.318del (p.Leu107fs) rs1761913048
NM_000322.5(PRPH2):c.330del (p.Ile111fs)
NM_000322.5(PRPH2):c.377T>C (p.Leu126Pro) rs2152010976
NM_000322.5(PRPH2):c.389T>C (p.Leu130Pro) rs1761911206
NM_000322.5(PRPH2):c.394del (p.Gln132fs) rs769723975
NM_000322.5(PRPH2):c.407del (p.Asn136fs)
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp) rs527236097
NM_000322.5(PRPH2):c.411dup (p.Met138fs)
NM_000322.5(PRPH2):c.421T>C (p.Tyr141His) rs61755780
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_000322.5(PRPH2):c.423C>A (p.Tyr141Ter) rs2152010946
NM_000322.5(PRPH2):c.423C>G (p.Tyr141Ter)
NM_000322.5(PRPH2):c.440dup (p.Gly148fs) rs1426763534
NM_000322.5(PRPH2):c.441del (p.Gly148fs) rs61755784
NM_000322.5(PRPH2):c.450T>A (p.Cys150Ter) rs1761908800
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg) rs61755785
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del) rs61755786
NM_000322.5(PRPH2):c.465del (p.Ile156fs)
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) rs61755787
NM_000322.5(PRPH2):c.484G>T (p.Glu162Ter)
NM_000322.5(PRPH2):c.493T>C (p.Cys165Arg) rs2152010916
NM_000322.5(PRPH2):c.494G>A (p.Cys165Tyr) rs61755788
NM_000322.5(PRPH2):c.494G>T (p.Cys165Phe) rs61755788
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr) rs786205579
NM_000322.5(PRPH2):c.498C>A (p.Cys166Ter) rs759752477
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.500G>A (p.Gly167Asp) rs61755789
NM_000322.5(PRPH2):c.509del (p.Gly170fs) rs2152010910
NM_000322.5(PRPH2):c.513dup (p.Arg172fs) rs2152010904
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala) rs61755794
NM_000322.5(PRPH2):c.518del (p.Asp173fs) rs2152010898
NM_000322.5(PRPH2):c.522G>A (p.Trp174Ter) rs1064793237
NM_000322.5(PRPH2):c.52del (p.Gln18fs) rs2152011142
NM_000322.5(PRPH2):c.531del (p.Gln178fs)
NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg) rs61755796
NM_000322.5(PRPH2):c.537G>A (p.Trp179Ter) rs779414078
NM_000322.5(PRPH2):c.548_551dup (p.Tyr184Ter)
NM_000322.5(PRPH2):c.556G>A (p.Asp186Asn) rs2152010859
NM_000322.5(PRPH2):c.571G>T (p.Glu191Ter) rs2152010848
NM_000322.5(PRPH2):c.578_579del (p.Lys193fs) rs62645929
NM_000322.5(PRPH2):c.581+1G>A rs1761904690
NM_000322.5(PRPH2):c.581+1G>C rs1761904690
NM_000322.5(PRPH2):c.582-1G>A rs1800118693
NM_000322.5(PRPH2):c.582-2A>G
NM_000322.5(PRPH2):c.583C>T (p.Arg195Ter) rs1322278463
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln) rs121918567
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu) rs121918567
NM_000322.5(PRPH2):c.584_588del (p.Arg195fs) rs1800118432
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu) rs62645931
NM_000322.5(PRPH2):c.597del (p.Asn199fs) rs1800118044
NM_000322.5(PRPH2):c.601_602insGGCCCTCTCCCGTCTCCCTCTCCCTCTCCCGACTCCCACTCCCTCTCCCGTCTCCCTCACCCGCACCCGAAACCCACACCCGCTCCCTGATACAACTCCCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAGCAACGTGG (p.Val200_Asp201insGlyProSerProValSerLeuSerLeuSerArgLeuProLeuProLeuProSerProSerProAlaProGluThrHisThrArgSerLeuIleGlnLeuProXaaXaaXaaXaaLysLysLysLysLysLysLysSerAsnVal)
NM_000322.5(PRPH2):c.603_620del (p.Arg203_Gly208del) rs1800116963
NM_000322.5(PRPH2):c.605G>A (p.Gly202Glu) rs1800117660
NM_000322.5(PRPH2):c.607_619del (p.Arg203fs)
NM_000322.5(PRPH2):c.609_625del (p.Tyr204fs) rs281865372
NM_000322.5(PRPH2):c.611_617dup (p.Asp207fs) rs1800117107
NM_000322.5(PRPH2):c.611_626del (p.Tyr204fs) rs1800116472
NM_000322.5(PRPH2):c.612C>A (p.Tyr204Ter) rs1554269081
NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter) rs1554269081
NM_000322.5(PRPH2):c.626T>A (p.Val209Asp) rs1220783333
NM_000322.5(PRPH2):c.628C>G (p.Pro210Ala) rs61755797
NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser) rs61755797
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) rs61755798
NM_000322.5(PRPH2):c.629C>T (p.Pro210Leu) rs61755798
NM_000322.5(PRPH2):c.62G>A (p.Trp21Ter) rs2152011135
NM_000322.5(PRPH2):c.631T>C (p.Phe211Leu) rs1800116126
NM_000322.5(PRPH2):c.631_632insA (p.Phe211fs) rs2152005352
NM_000322.5(PRPH2):c.633C>A (p.Phe211Leu) rs61755799
NM_000322.5(PRPH2):c.633C>G (p.Phe211Leu) rs61755799
NM_000322.5(PRPH2):c.633_658del (p.Phe211fs) rs2152005323
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly) rs61755800
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000322.5(PRPH2):c.636C>G (p.Ser212Arg) rs1554269071
NM_000322.5(PRPH2):c.637T>A (p.Cys213Ser)
NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg) rs61755802
NM_000322.5(PRPH2):c.638G>C (p.Cys213Ser) rs61755803
NM_000322.5(PRPH2):c.639C>G (p.Cys213Trp) rs1800115811
NM_000322.5(PRPH2):c.641_652del (p.Cys214_Ser217del) rs1800115217
NM_000322.5(PRPH2):c.642C>A (p.Cys214Ter) rs1388865786
NM_000322.5(PRPH2):c.643A>C (p.Asn215His) rs2152005339
NM_000322.5(PRPH2):c.643A>T (p.Asn215Tyr) rs2152005339
NM_000322.5(PRPH2):c.646C>G (p.Pro216Ala) rs61755805
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.646_649delinsGG (p.Pro216fs) rs1800115494
NM_000322.5(PRPH2):c.647C>G (p.Pro216Arg) rs61755806
NM_000322.5(PRPH2):c.652T>C (p.Ser218Pro) rs1582764878
NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter) rs986748364
NM_000322.5(PRPH2):c.654_655del (p.Pro219fs) rs2152005328
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro) rs61755810
NM_000322.5(PRPH2):c.662C>T (p.Pro221Leu) rs973931180
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg) rs1554269053
NM_000322.5(PRPH2):c.665G>A (p.Cys222Tyr) rs1442844778
NM_000322.5(PRPH2):c.665G>C (p.Cys222Ser) rs1442844778
NM_000322.5(PRPH2):c.666C>A (p.Cys222Ter)
NM_000322.5(PRPH2):c.68del (p.Met23fs)
NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter) rs1554269046
NM_000322.5(PRPH2):c.695C>A (p.Ala232Glu) rs1800113364
NM_000322.5(PRPH2):c.700del (p.Tyr234fs) rs1800113276
NM_000322.5(PRPH2):c.702C>A (p.Tyr234Ter) rs2152005280
NM_000322.5(PRPH2):c.708C>A (p.Tyr236Ter)
NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter) rs61755813
NM_000322.5(PRPH2):c.710_720del (p.Asp237fs)
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000322.5(PRPH2):c.719del (p.Thr240fs)
NM_000322.5(PRPH2):c.721G>T (p.Glu241Ter) rs2152005272
NM_000322.5(PRPH2):c.738G>A (p.Trp246Ter) rs1800111659
NM_000322.5(PRPH2):c.738G>C (p.Trp246Cys) rs1800111659
NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser) rs1064793931
NM_000322.5(PRPH2):c.74G>A (p.Trp25Ter)
NM_000322.5(PRPH2):c.750C>A (p.Cys250Ter) rs2152005243
NM_000322.5(PRPH2):c.751_758del (p.Arg251fs) rs2152005235
NM_000322.5(PRPH2):c.761T>A (p.Leu254Gln) rs1800110989
NM_000322.5(PRPH2):c.769_772dup (p.Tyr258fs)
NM_000322.5(PRPH2):c.771C>G (p.Tyr257Ter) rs1800110757
NM_000322.5(PRPH2):c.774C>G (p.Tyr258Ter) rs121918564
NM_000322.5(PRPH2):c.794_805del (p.Met265_Val268del)
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp) rs62645935
NM_000322.5(PRPH2):c.809_810del (p.Leu270fs) rs1800109348
NM_000322.5(PRPH2):c.810_828+9del rs2152005174
NM_000322.5(PRPH2):c.811_822del (p.Leu271_Leu274del)
NM_000322.5(PRPH2):c.811del (p.Leu271fs) rs1582764528
NM_000322.5(PRPH2):c.826G>T (p.Glu276Ter) rs751900290
NM_000322.5(PRPH2):c.828+1G>A rs1800108516
NM_000322.5(PRPH2):c.828+1G>T rs1800108516
NM_000322.5(PRPH2):c.828+2T>C rs1800108496
NM_000322.5(PRPH2):c.829-4C>G rs1582759785
NM_000322.5(PRPH2):c.855C>A (p.Tyr285Ter) rs62645938
NM_000322.5(PRPH2):c.858del (p.Gln287fs)
NM_000322.5(PRPH2):c.860_867del (p.Gln287fs) rs1554268546
NM_000322.5(PRPH2):c.868_869del (p.Leu290fs) rs2152003863
NM_000322.5(PRPH2):c.897dup (p.Glu300Ter)
NM_000322.5(PRPH2):c.903_906del (p.Ser301fs) rs1799988458
NM_000322.5(PRPH2):c.90_93del (p.Gly31fs) rs2152011112
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp) rs61748432
NM_000322.5(PRPH2):c.914del (p.Gly305fs) rs2152003847
NM_000322.5(PRPH2):c.920del (p.Leu307fs) rs61748433
NM_000322.5(PRPH2):c.935_939dup (p.Glu314fs) rs1799986394
NM_000322.5(PRPH2):c.936del (p.Pro313fs)
NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter) rs1554268521
NM_000322.5(PRPH2):c.948del (p.Thr315_Trp316insTer)
NM_000322.5(PRPH2):c.954_955del (p.Phe319fs)
NM_000322.5(PRPH2):c.964_965del (p.Ser322fs) rs1799985749
NM_000322.5(PRPH2):c.96dup (p.Ile33fs) rs61755768
NM_000322.5(PRPH2):c.991C>T (p.Gln331Ter) rs281865375
NM_000322.5(PRPH2):c.991del (p.Gln331fs) rs2152003795
NM_000322.5(PRPH2):c.994del (p.Val332fs) rs2152003792

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