ClinVar Miner

List of variants reported as pathogenic by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

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ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_001395891.1(CLASP1):c.196-605C>T rs188343279 0.00038
NM_000094.4(COL7A1):c.8803C>T (p.Gln2935Ter) rs767051948 0.00005
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000094.4(COL7A1):c.8109+1G>A rs1050797523 0.00001
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946 0.00001
NM_001953.5(TYMP):c.628A>C (p.Ser210Arg) rs761665644 0.00001
NM_003995.4(NPR2):c.1435C>T (p.Arg479Ter) rs1057519324 0.00001
NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr) rs606231471 0.00001
GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1
GRCh38/hg38 Xq27.3-28(chrX:145728205-150464413)x1
NM_000094.4(COL7A1):c.4616del (p.Pro1539fs) rs2107717630
NM_000094.4(COL7A1):c.5254_5257delinsTGAATCA (p.Gly1752_Pro1753delinsTer) rs2107698884
NM_000094.4(COL7A1):c.7272+1G>A rs2107648492
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000171.4(GLRA1):c.477-1G>A rs762864856
NM_000190.4(HMBS):c.210+1G>C rs2134859316
NM_000190.4(HMBS):c.211-1G>T rs1565754452
NM_000202.8(IDS):c.1006+1G>A rs869025308
NM_000202.8(IDS):c.104-2A>C rs2089505773
NM_000202.8(IDS):c.1047C>A (p.Ser349Arg) rs375836575
NM_000202.8(IDS):c.1181-1G>C rs864622777
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) rs199422229
NM_000202.8(IDS):c.1272del (p.Pro425fs) rs2123994828
NM_000202.8(IDS):c.1316del (p.Leu439fs) rs2123994709
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter) rs199422230
NM_000202.8(IDS):c.1466del (p.Gly489fs) rs2123994190
NM_000202.8(IDS):c.1470T>G (p.Tyr490Ter) rs2123994176
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter) rs2089304408
NM_000202.8(IDS):c.1505G>A (p.Trp502Ter) rs199422228
NM_000202.8(IDS):c.152_236del (p.Leu51fs) rs2124065699
NM_000202.8(IDS):c.162T>A (p.Tyr54Ter) rs141088021
NM_000202.8(IDS):c.196C>T (p.Gln66Ter) rs1557340403
NM_000202.8(IDS):c.223C>T (p.Gln75Ter) rs2089503778
NM_000202.8(IDS):c.252C>G (p.Cys84Trp) rs1557340286
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.257C>G (p.Pro86Arg) rs1557340280
NM_000202.8(IDS):c.262C>T (p.Arg88Cys) rs398123249
NM_000202.8(IDS):c.263G>A (p.Arg88His) rs2089497431
NM_000202.8(IDS):c.418+2T>C rs2124062810
NM_000202.8(IDS):c.419-2A>G rs2089476206
NM_000202.8(IDS):c.473ATC[1] (p.His159del) rs1557339887
NM_000202.8(IDS):c.474del (p.His159fs) rs2124055341
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.57del (p.Val20fs) rs2124069318
NM_000202.8(IDS):c.601_602del (p.Ser201fs) rs2124046861
NM_000202.8(IDS):c.683C>T (p.Pro228Leu) rs113993945
NM_000202.8(IDS):c.709-1G>A rs2089438403
NM_000202.8(IDS):c.886dup (p.Ile296fs) rs2124020896
NM_000202.8(IDS):c.895dup (p.Ser299fs) rs2124020775
NM_000202.8(IDS):c.955del (p.Asp319fs) rs2124020278
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_000213.5(ITGB4):c.4734dup (p.Asn1579fs) rs2143532950
NM_000271.5(NPC1):c.1418C>G (p.Ser473Ter)
NM_000396.4(CTSK):c.158dup (p.Asn53fs) rs764168526
NM_000396.4(CTSK):c.402del (p.Gln135fs) rs2101951682
NM_000396.4(CTSK):c.431_432del (p.Ser144fs) rs2101951641
NM_000396.4(CTSK):c.458del (p.Lys153fs) rs2101951608
NM_000396.4(CTSK):c.907G>A (p.Gly303Arg) rs2101946013
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001040716.2(PC):c.2668G>T (p.Val890Phe) rs1555014957
NM_001083962.2(TCF4):c.1086del (p.Trp362fs) rs2145600541
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001160372.4(TRAPPC9):c.2458_2459del (p.Leu820fs) rs2131321455
NM_001190274.2(FBXO11):c.2636_2637del (p.Glu879fs) rs1230294673
NM_001195305.3(BBIP1):c.109C>T (p.Gln37Ter) rs1590746439
NM_001206999.2(CIT):c.4617del (p.Asp1541fs) rs2137067282
NM_001365902.3(NFIX):c.416G>A (p.Gly139Glu) rs1555696625
NM_001395891.1(CLASP1):c.196-609C>T rs575472572
NM_001953.5(TYMP):c.763_765del (p.Leu255del) rs1556488264
NM_002778.4(PSAP):c.721T>G (p.Cys241Gly)
NM_003995.4(NPR2):c.1758del (p.Ala585_Cys586insTer) rs1057519334
NM_003995.4(NPR2):c.2302T>C (p.Cys768Arg) rs1057519333
NM_003995.4(NPR2):c.2944G>A (p.Asp982Asn) rs1057519336
NM_003995.4(NPR2):c.560T>A (p.Val187Asp) rs1057519335
NM_004273.5(CHST3):c.491C>T (p.Pro164Leu) rs771866012
NM_004273.5(CHST3):c.533dup (p.Ala179fs) rs769540174
NM_004273.5(CHST3):c.904G>C (p.Asp302His) rs1316347883
NM_004782.4(SNAP29):c.487dup (p.Ser163fs) rs387907363
NM_004826.4(ECEL1):c.716dup (p.Tyr239Ter) rs587776917
NM_004897.5(MINPP1):c.1027_1028del (p.Ile343fs) rs2131815084
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His) rs977038830
NM_005957.5(MTHFR):c.1408G>T (p.Glu470Ter) rs139645527
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His) rs137853050
NM_006031.6(PCNT):c.4974_4977del (p.Lys1659fs) rs2147503631
NM_006031.6(PCNT):c.8107C>T (p.Arg2703Ter) rs758298374
NM_006031.6(PCNT):c.8752-2A>C rs1394951912
NM_007254.4(PNKP):c.1299-5_1303del rs2122319422
NM_012233.3(RAB3GAP1):c.2642T>G (p.Leu881Ter) rs797045905
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014865.4(NCAPD2):c.4120+2T>C rs1555141158
NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter) rs367752391
NM_017646.6(TRIT1):c.568C>T (p.Gln190Ter) rs2124597984
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs) rs199422137
NM_018676.4(THSD1):c.892G>T (p.Glu298Ter)
NM_020964.3(EPG5):c.3544G>T (p.Glu1182Ter) rs2145712492
NM_021008.4(DEAF1):c.815T>G (p.Leu272Ter)
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_130384.3(ATRIP):c.829+2T>G rs2107215447
NM_130466.4(UBE3B):c.3065_3078delinsC (p.Arg1022fs)
NM_139284.3(LGI4):c.2T>C (p.Met1Thr) rs1207534366

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