ClinVar Miner

List of variants reported by Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS

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ClinVar version:
Total variants: 186
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) rs762742204 0.00009
NM_001036.6(RYR3):c.13948G>A (p.Ala4650Thr) rs368466725 0.00006
NM_002662.5(PLD1):c.2023C>T (p.Arg675Trp) rs202167212 0.00006
NM_014252.4(SLC25A15):c.388G>A (p.Val130Met) rs553432772 0.00005
NM_024312.5(GNPTAB):c.2019A>G (p.Lys673=) rs551905649 0.00005
NR_023343.1:n.30G>A rs374299350 0.00005
NM_000543.5(SMPD1):c.605G>A (p.Arg202His) rs757850587 0.00004
NM_001201407.2(ZNF778):c.1894C>T (p.Leu632Phe) rs760873642 0.00004
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter) rs137853944 0.00004
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538 0.00004
NM_001377.3(DYNC2H1):c.7784A>G (p.His2595Arg) rs755505546 0.00003
NM_002470.4(MYH3):c.5555C>T (p.Thr1852Met) rs539272823 0.00003
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825 0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764 0.00002
NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln) rs531148057 0.00002
NM_016006.6(ABHD5):c.934C>T (p.Arg312Ter) rs761087968 0.00002
NM_017777.4(MKS1):c.958G>A (p.Val320Ile) rs386834053 0.00002
NM_000181.4(GUSB):c.893C>T (p.Ala298Val) rs1451709678 0.00001
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser) rs776442314 0.00001
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter) rs755160837 0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro) rs764317969 0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp) rs779927660 0.00001
NM_001114753.3(ENG):c.790G>A (p.Asp264Asn) rs1210433339 0.00001
NM_001352754.2(ARMC9):c.879G>A (p.Thr293=) rs766572502 0.00001
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316 0.00001
NM_002317.7(LOX):c.760G>A (p.Val254Ile) rs575190694 0.00001
NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter) rs267607016 0.00001
NM_006623.4(PHGDH):c.357-1G>A rs766427173 0.00001
NM_019109.5(ALG1):c.652C>T (p.Pro218Ser) rs528261173 0.00001
NM_020975.6(RET):c.2137-31del rs778378926 0.00001
NM_024312.5(GNPTAB):c.1600G>A (p.Asp534Asn) rs750240374 0.00001
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys) rs769587233 0.00001
NM_182961.4(SYNE1):c.4499T>A (p.Ile1500Asn) rs746438011 0.00001
NC_000006.12:g.129464290_129464452del rs1554301637
NC_000017.11:g.1270783_1270784delinsTT rs886037856
NG_029832.1(RNU4ATAC):g.[5030G>A];[5040C>T]
NM_000046.5(ARSB):c.290A>G (p.Gln97Arg) rs886039914
NM_000088.4(COL1A1):c.1867G>A (p.Gly623Ser) rs2144564489
NM_000091.5(COL4A3):c.4145G>T (p.Gly1382Val) rs1574834554
NM_000092.5(COL4A4):c.2956C>T (p.Pro986Ser) rs1576142052
NM_000095.3(COMP):c.2048G>A (p.Arg683His) rs565459602
NM_000132.4(F8):c.4767_4768insATAACCAA (p.Tyr1590fs) rs886039906
NM_000138.5(FBN1):c.6004C>T (p.Pro2002Ser) rs1057519320
NM_000142.5(FGFR3):c.1519G>A (p.Val507Met) rs1560437651
NM_000157.4(GBA1):c.1265_1320del (p.Leu422fs) rs2148071537
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter) rs1567914459
NM_000308.4(CTSA):c.580G>A (p.Asp194Asn) rs2145816069
NM_000368.5(TSC1):c.2269G>T (p.Glu757Ter) rs1057519319
NM_000466.3(PEX1):c.1670+1G>A rs1057517490
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala) rs767928113
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del) rs371047178
NM_000543.5(SMPD1):c.1071_1081del (p.Glu358fs) rs2134013240
NM_000543.5(SMPD1):c.1088T>G (p.Leu363Arg) rs2134013368
NM_000543.5(SMPD1):c.1112T>C (p.Leu371Pro) rs2134017039
NM_000543.5(SMPD1):c.1151del (p.Met384fs) rs2134017306
NM_000543.5(SMPD1):c.1167T>G (p.Arg389=) rs1162794351
NM_000543.5(SMPD1):c.1171A>C (p.Asn391His) rs2134017443
NM_000543.5(SMPD1):c.1340G>A (p.Arg447Lys) rs2134019797
NM_000543.5(SMPD1):c.1341-10_1429dup rs1554935254
NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser) rs1319643225
NM_000543.5(SMPD1):c.1429C>A (p.Pro477Thr) rs2134021440
NM_000543.5(SMPD1):c.1487-1G>A rs2134022652
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.1518C>A (p.Tyr506Ter) rs943924098
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln) rs199915216
NM_000543.5(SMPD1):c.1638del (p.Leu547fs) rs2134023610
NM_000543.5(SMPD1):c.1699C>T (p.Gln567Ter) rs943865463
NM_000543.5(SMPD1):c.1783C>G (p.Leu595Val) rs2134024349
NM_000543.5(SMPD1):c.1817del (p.Pro606fs) rs1554935746
NM_000543.5(SMPD1):c.257G>A (p.Trp86Ter) rs2134006592
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000543.5(SMPD1):c.469G>A (p.Glu157Lys) rs2134009384
NM_000543.5(SMPD1):c.504dup (p.His169fs) rs2134009550
NM_000543.5(SMPD1):c.505dup (p.His169fs) rs781535659
NM_000543.5(SMPD1):c.518dup (p.Ser174fs) rs786204733
NM_000543.5(SMPD1):c.647T>G (p.Leu216Arg) rs1590738910
NM_000543.5(SMPD1):c.668G>C (p.Cys223Ser) rs2134010914
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe) rs1847925080
NM_000543.5(SMPD1):c.725G>A (p.Gly242Asp) rs1057435197
NM_000543.5(SMPD1):c.933_936delinsGAC (p.Val312fs) rs2134012543
NM_000543.5(SMPD1):c.938_939delinsTGGTGGGCCAGCATGGT (p.Pro313delinsLeuValGlyGlnHisGly) rs2134012580
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg) rs757934797
NM_000702.4(ATP1A2):c.1651G>C (p.Gly551Arg) rs746744495
NM_000789.4(ACE):c.2642-1G>A rs778390161
NM_000942.5(PPIB):c.399_401dup (p.Gly134_Pro135insGly) rs886039912
NM_001017420.3(ESCO2):c.1166G>A (p.Cys389Tyr) rs2128955152
NM_001036.6(RYR3):c.6248A>C (p.Gln2083Pro) rs2152767575
NM_001077365.2(POMT1):c.1093_1094insGGAGCACGGTGTGGAACGTGGG (p.Val365fs) rs2131707009
NM_001077365.2(POMT1):c.1417G>C (p.Gly473Arg) rs376882399
NM_001077415.3(CRELD1):c.822_823del (p.Ala275fs) rs1575650682
NM_001079802.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_001080451.2(SERPINA11):c.672C>A (p.Tyr224Ter) rs775643756
NM_001083961.2(WDR62):c.669del (p.Trp224fs) rs1599760058
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001199397.3(NEK1):c.3337G>T (p.Glu1113Ter) rs1732670701
NM_001199397.3(NEK1):c.984del (p.Lys328fs) rs1432921892
NM_001205254.2(OCLN):c.252del (p.Ser85fs) rs863225128
NM_001257096.2(PAX1):c.1169_1173dup (p.Pro392fs) rs1555804780
NM_001260.3(CDK8):c.185C>A (p.Ser62Ter) rs1565977796
NM_001267550.2(TTN):c.62129dup (p.Ser20712fs) rs886039913
NM_001278716.2(FBXL4):c.1350T>G (p.Cys450Trp) rs2128378917
NM_001278716.2(FBXL4):c.736dup (p.Ile246fs) rs2128400842
NM_001367721.1(CASK):c.2561T>C (p.Val854Ala) rs1569283243
NM_001377.3(DYNC2H1):c.3446G>A (p.Trp1149Ter) rs2134885529
NM_001385079.1(PDE10A):c.1799T>G (p.Phe600Cys) rs1554258695
NM_001849.4(COL6A2):c.2040dup (p.Ile681fs) rs886039905
NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe) rs1057519321
NM_002485.5(NBN):c.935T>A (p.Leu312Ter) rs371480039
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly) rs397509344
NM_003394.4(WNT10B):c.499_500del (p.Leu167fs) rs2137612860
NM_003632.3(CNTNAP1):c.2444C>A (p.Thr815Asn) rs746361190
NM_003922.4(HERC1):c.4906-2A>C rs797045141
NM_004181.5(UCHL1):c.459+2T>C rs1554004931
NM_004211.5(SLC6A5):c.1759G>A (p.Val587Met) rs1207600372
NM_004369.4(COL6A3):c.6283-2A>C rs797044988
NM_004484.4(GPC3):c.1692del (p.Leu565fs) rs886039908
NM_004560.4(ROR2):c.623-11G>A rs1350375399
NM_005450.6(NOG):c.611G>A (p.Arg204Gln) rs104894610
NM_005529.7(HSPG2):c.4740+5G>A rs886039909
NM_005592.4(MUSK):c.112G>T (p.Asp38Tyr) rs1412657094
NM_005630.3(SLCO2A1):c.1237_1246del (p.Val413fs) rs765698717
NM_005630.3(SLCO2A1):c.529C>T (p.Gln177Ter) rs2108045848
NM_005630.3(SLCO2A1):c.614C>T (p.Pro205Leu) rs2108045784
NM_005787.6(ALG3):c.221A>G (p.Tyr74Cys) rs1028791709
NM_006208.3(ENPP1):c.1000C>G (p.Pro334Ala) rs1562523328
NM_012082.4(ZFPM2):c.1168A>C (p.Lys390Gln) rs536096943
NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys) rs569356297
NM_014254.3(RXYLT1):c.390G>A (p.Trp130Ter) rs1565899712
NM_015272.5(RPGRIP1L):c.2684-9A>G rs1211499888
NM_015443.4:c.1431+1_1432-1del
NM_016580.4(PCDH12):c.2008G>T (p.Glu670Ter) rs531630376
NM_017813.5(BPNT2):c.473_474dup (p.Thr159Ter) rs2129205425
NM_018451.5(CPAP):c.3309dup (p.Pro1104fs) rs1131691823
NM_019026.6(TMCO1):c.70G>C (p.Gly24Arg) rs929157192
NM_019885.4(CYP26B1):c.86C>A (p.Ser29Ter)
NM_020366.4(RPGRIP1):c.903_906+17del rs886039911
NM_020435.4(GJC2):c.78del (p.Trp27fs) rs886039904
NM_020964.3(EPG5):c.4665del (p.Glu1555fs) rs1057519318
NM_021971.2(GMPPB):c.[1000G>A];[951+1G>A]
NM_024312.5(GNPTAB):c.1021_1023del (p.Pro341del) rs1060499679
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro) rs112543062
NM_024312.5(GNPTAB):c.1408+1G>T rs1060499680
NM_024312.5(GNPTAB):c.1540C>T (p.Leu514Phe) rs1953089808
NM_024312.5(GNPTAB):c.1613-25del rs546802775
NM_024312.5(GNPTAB):c.2129_2135del (p.Ser710fs) rs1953060183
NM_024312.5(GNPTAB):c.2369_2370del (p.Phe790fs) rs1060499685
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs) rs281864996
NM_024312.5(GNPTAB):c.2550_2554dup (p.Ile852fs) rs281864996
NM_024312.5(GNPTAB):c.2614del (p.Val872fs) rs1060499681
NM_024312.5(GNPTAB):c.2675dup (p.Leu892fs) rs1555269488
NM_024312.5(GNPTAB):c.2947_2954dup (p.Arg986fs) rs1555269154
NM_024312.5(GNPTAB):c.2953_2954delinsA (p.Val985fs) rs1952989955
NM_024312.5(GNPTAB):c.2957G>A (p.Arg986His) rs776312538
NM_024312.5(GNPTAB):c.2985_2989del (p.Phe995fs) rs1952988642
NM_024312.5(GNPTAB):c.3250-10_3335+112dup rs1555268712
NM_024312.5(GNPTAB):c.3250-16_3335+104dup rs1952918542
NM_024312.5(GNPTAB):c.3250-1_3250delinsAT rs1060499687
NM_024312.5(GNPTAB):c.3307_3318delinsCAGTAACT (p.Lys1103_Lys1106delinsGlnTer) rs1952921914
NM_024312.5(GNPTAB):c.3336-1G>A rs397507562
NM_024312.5(GNPTAB):c.3449del (p.Leu1150fs) rs1060499684
NM_024312.5(GNPTAB):c.3539C>T (p.Ser1180Phe) rs1060499689
NM_024312.5(GNPTAB):c.3575T>C (p.Phe1192Ser) rs1060499688
NM_024312.5(GNPTAB):c.3602G>A (p.Trp1201Ter) rs1952850511
NM_024312.5(GNPTAB):c.378dup (p.Glu127fs) rs1555271865
NM_024312.5(GNPTAB):c.571+4A>T rs1868618470
NM_024312.5(GNPTAB):c.571G>A (p.Val191Ile) rs751953529
NM_032520.5(GNPTG):c.110+1G>C rs1555450716
NM_032520.5(GNPTG):c.233+5G>A rs1060499691
NM_032520.5(GNPTG):c.318-28_351del rs2034895916
NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter) rs1060499690
NM_058172.6(ANTXR2):c.1148G>A (p.Gly383Asp) rs886039907
NM_078471.4(MYO18A):c.2932G>A (p.Ala978Thr) rs761772888
NM_133433.4(NIPBL):c.3868GAA[3] (p.Glu1293del) rs773996562
NM_144596.4(TTC8):c.114+2T>C rs1273244823
NM_145056.3(DACT3):c.751G>T (p.Gly251Cys) rs1004016023
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser) rs763283033
NM_153332.4(ERI1):c.627del (p.Lys209_Val210insTer) rs1563322318
NM_182943.3(PLOD2):c.648C>A (p.Cys216Ter) rs2108057452
NR_023343.3(RNU4ATAC):n.40C>T rs139495292
t(1;12)(p36.1;p13.32)dn

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