ClinVar Miner

List of variants reported as pathogenic by New York Genome Center

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ClinVar version:
Total variants: 226
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00202
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619 0.00039
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00023
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_021800.3(DNAJC12):c.524G>A (p.Trp175Ter) rs370032864 0.00022
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 0.00020
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter) rs397515426 0.00014
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_003038.5(SLC1A4):c.766G>A (p.Glu256Lys) rs201278558 0.00012
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) rs199689137 0.00011
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181 0.00007
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) rs118203982 0.00007
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_001080.3(ALDH5A1):c.1234C>T (p.Arg412Ter) rs118203983 0.00004
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_015087.5(SPART):c.1369C>T (p.Arg457Ter) rs200373703 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000384.3(APOB):c.6034C>T (p.Arg2012Ter) rs147863759 0.00002
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00002
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) rs180177135 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_000038.6(APC):c.1213C>T (p.Arg405Ter) rs587779780 0.00001
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val) rs199472763 0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_001005242.3(PKP2):c.1063C>T (p.Arg355Ter) rs754912778 0.00001
NM_001244710.2(GFPT1):c.686dup (p.Ala229_Arg230insTer) rs1380136176 0.00001
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter) rs749523755 0.00001
NM_001458.5(FLNC):c.3791-1G>C rs781135153 0.00001
NM_002465.4(MYBPC1):c.952C>T (p.Arg318Ter) rs397515422 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_003001.5(SDHC):c.1A>G (p.Met1Val) rs755235380 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_007294.4(BRCA1):c.5136G>A (p.Trp1712Ter) rs80357418 0.00001
NM_052867.4(NALCN):c.3022C>T (p.Arg1008Ter) rs766421214 0.00001
NM_138711.6(PPARG):c.362A>G (p.Tyr121Cys) rs1354592503 0.00001
NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter) rs1162037663 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)
GRCh38/hg38 1q21.1-21.2(chr1:146872717-148353641)
NC_000001.10:g.4481271_20530242del
NC_000006.11:g.116734559_123648104del
NC_000007.14:g.(75058300_?)_(?_79083658)del
NC_000007.14:g.152052676_152295696del
NC_000015.10:g.22698177_(23120963_23380983)del
NC_000015.10:g.22804175_30375696dup
NC_000015.10:g.23370759_30529376del
NC_000017.11:g.44846894_44962103del
NC_000023.11:g.(154612552_154656872)_(156005236_156038495)del
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.5799_5802del (p.Asn1933fs) rs80359538
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) rs773526895
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln) rs121918408
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs) rs63750439
NM_000214.3(JAG1):c.1653C>A (p.Cys551Ter) rs2122607772
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
NM_000218.3(KCNQ1):c.595T>G (p.Ser199Ala) rs199472701
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs) rs397515926
NM_000256.3(MYBPC3):c.2729del (p.Pro910fs)
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000314.8(PTEN):c.253+1G>T rs587776667
NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter) rs1553607597
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) rs121909208
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.6673dup (p.Thr2225fs)
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000527.5(LDLR):c.103C>T (p.Gln35Ter) rs879254408
NM_000527.5(LDLR):c.1A>T (p.Met1Leu) rs879254382
NM_000527.5(LDLR):c.253C>T (p.Gln85Ter) rs875989893
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000834.5(GRIN2B):c.2117T>A (p.Met706Lys) rs2136415741
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001012614.2(CTBP1):c.991C>T (p.Arg331Trp) rs869320802
NM_001042492.3(NF1):c.1882del (p.Tyr628fs)
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001080510.5(METTL23):c.169_172del (p.His57fs) rs587777644
NM_001080517.3(SETD5):c.2347-7A>G rs886041593
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001114753.3(ENG):c.392del (p.Pro131fs) rs1554810510
NM_001130438.3(SPTAN1):c.7229C>T (p.Ser2410Phe) rs2132106592
NM_001165963.4(SCN1A):c.3124C>T (p.Gln1042Ter) rs1553540342
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001197104.2(KMT2A):c.7020del (p.Asn2340fs) rs1950523317
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs) rs2141872119
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter) rs72648224
NM_001272071.2(AP1S2):c.154C>T (p.Arg52Ter) rs104894735
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001320.7(CSNK2B):c.349C>T (p.Gln117Ter) rs2151188371
NM_001330260.2(SCN8A):c.2901+2T>C rs2138863154
NM_001348716.2(KDM6B):c.1146C>A (p.Cys382Ter) rs59062945
NM_001353345.2(SETD1B):c.1579C>T (p.Gln527Ter) rs2137553018
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001365536.1(SCN9A):c.4495C>T (p.Arg1499Ter) rs187558439
NM_001365902.3(NFIX):c.586C>T (p.Gln196Ter) rs2145430763
NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro) rs397514627
NM_001369.3(DNAH5):c.1852C>T (p.Arg618Ter) rs778780449
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_001374623.1(PNPLA1):c.1300del (p.Ala434fs) rs753687060
NM_001374828.1(ARID1B):c.4150C>T (p.Gln1384Ter) rs1182325800
NM_001378418.1(TCF20):c.565C>T (p.Gln189Ter) rs2147221870
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001395891.1(CLASP1):c.196-609C>T rs575472572
NM_001904.4(CTNNB1):c.1925_1926del (p.Glu642fs) rs1553632361
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002087.4(GRN):c.328C>T (p.Arg110Ter) rs63750411
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala) rs397507517
NM_003042.4(SLC6A1):c.1377C>G (p.Ser459Arg) rs1064795099
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004667.6(HERC2):c.1168C>T (p.Arg390Ter) rs756221917
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_005413.4(SIX3):c.749T>C (p.Val250Ala) rs121917880
NM_005629.4(SLC6A8):c.627del (p.Val210fs) rs2148361177
NM_005912.3(MC4R):c.171del (p.Ser58fs)
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006565.4(CTCF):c.615_618del (p.Lys206fs) rs1555534147
NM_006772.3(SYNGAP1):c.3416dup (p.Thr1140fs) rs1554122458
NM_007294.4(BRCA1):c.1450G>T (p.Gly484Ter) rs80357304
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007363.5(NONO):c.1394dup (p.Asn466fs) rs869025344
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_013275.6(ANKRD11):c.6792del (p.Ala2265fs) rs878855327
NM_013335.4(GMPPA):c.210del (p.Ala71fs) rs886037654
NM_015335.5(MED13L):c.319dup (p.Glu107fs) rs2137899583
NM_016284.5(CNOT1):c.1603C>T (p.Arg535Cys) rs1567417422
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017635.5(KMT5B):c.668_672del (p.Lys223fs) rs1590956245
NM_017780.4(CHD7):c.8064del (p.Ile2688fs) rs2129726316
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018294.6(CWF19L1):c.708+294_1044+1540del
NM_020719.3(PRR12):c.2680_2695dup (p.Val899fs) rs2122298859
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020928.2(ZSWIM6):c.2710C>T (p.Arg904Ter) rs2112294273
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971
NM_022552.5(DNMT3A):c.1791del (p.Arg598fs) rs2149289125
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022893.4(BCL11A):c.1846_1847delinsA (p.Gly616fs) rs2103830741
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_030632.3(ASXL3):c.4826G>A (p.Trp1609Ter) rs2145429823
NM_030948.6(PHACTR1):c.1396C>A (p.Leu466Met) rs2127450867
NM_057175.5(NAA15):c.430C>T (p.Arg144Ter) rs1560966086
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_170707.4(LMNA):c.898G>A (p.Asp300Asn) rs267607591
NM_181552.4(CUX1):c.1834C>T (p.Gln612Ter) rs2131985466
NM_205768.3(ZBTB18):c.1391G>A (p.Arg464His) rs1558149913
Single allele

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