ClinVar Miner

List of variants reported as likely benign by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg) rs114772012 0.02384
NM_017553.3(INO80):c.2644A>G (p.Ile882Val) rs34153025 0.01426
NM_006080.3(SEMA3A):c.1303G>A (p.Val435Ile) rs147436181 0.01250
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) rs35156360 0.01032
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) rs121912497 0.00981
NM_052867.4(NALCN):c.2192+5C>T rs41281140 0.00972
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00940
NM_032776.3(JMJD1C):c.6570+3G>A rs76935733 0.00908
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00831
NM_003183.6(ADAM17):c.2017G>A (p.Val673Ile) rs61754177 0.00673
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570 0.00662
NM_001382347.1(MYO5A):c.5409+4G>A rs72734962 0.00636
NM_030957.4(ADAMTS10):c.2403+4A>G rs187565033 0.00609
NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr) rs144380633 0.00599
NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys) rs2230531 0.00510
NM_004204.5(PIGQ):c.350C>T (p.Ala117Val) rs111753944 0.00508
NM_000428.3(LTBP2):c.1399+10G>T rs143528294 0.00488
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_018063.5(HELLS):c.2T>C (p.Met1Thr) rs113154675 0.00481
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00456
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00449
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00445
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00439
NM_005629.4(SLC6A8):c.1768-3C>T rs150207268 0.00435
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00421
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) rs141245482 0.00376
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_021072.4(HCN1):c.140G>T (p.Gly47Val) rs544994462 0.00350
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_001733.7(C1R):c.231+6G>A rs145563624 0.00314
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_001367624.2(ZNF469):c.7611G>C (p.Glu2537Asp) rs199519673 0.00279
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys) rs34702903 0.00276
NM_000238.4(KCNH2):c.621C>T (p.Ser207=) rs41314417 0.00273
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_012452.3(TNFRSF13B):c.215G>A (p.Arg72His) rs55916807 0.00261
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) rs41278047 0.00251
NM_001036.6(RYR3):c.8555G>A (p.Arg2852His) rs150799181 0.00244
NM_000211.5(ITGB2):c.147+9C>T rs199948899 0.00243
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00225
NM_004370.6(COL12A1):c.2275C>T (p.Pro759Ser) rs141517088 0.00224
NM_005051.3(QARS1):c.25C>A (p.Leu9Ile) rs62621067 0.00217
NM_001367624.2(ZNF469):c.8381C>T (p.Thr2794Met) rs202188220 0.00214
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843 0.00207
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940 0.00202
NM_006030.4(CACNA2D2):c.3398C>T (p.Pro1133Leu) rs150832847 0.00197
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00183
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00177
NM_001161352.2(KCNMA1):c.2484+7G>A rs13377017 0.00176
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996 0.00175
NM_000448.3(RAG1):c.725A>G (p.Gln242Arg) rs76897604 0.00164
NM_001365276.2(TNXB):c.2811C>A (p.Thr937=) rs140665128 0.00156
NM_014009.4(FOXP3):c.176C>G (p.Ser59Cys) rs199917616 0.00139
NM_007315.4(STAT1):c.1222-5T>C rs191364028 0.00135
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg) rs753664726 0.00133
NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln) rs145229115 0.00131
NM_025099.6(CTC1):c.2478A>G (p.Thr826=) rs200643329 0.00131
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00127
NM_032790.4(ORAI1):c.668A>G (p.Asn223Ser) rs75603737 0.00127
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933 0.00125
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374 0.00115
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655 0.00110
NM_147686.4(TRAF3IP2):c.281G>A (p.Ser94Asn) rs61756667 0.00110
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_017837.4(PIGV):c.348G>A (p.Leu116=) rs148662665 0.00096
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207 0.00081
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys) rs145833100 0.00079
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938 0.00077
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062 0.00070
NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg) rs143028540 0.00068
NM_001366385.1(CARD14):c.960G>A (p.Glu320=) rs144207494 0.00065
NM_138576.4(BCL11B):c.1521C>T (p.Gly507=) rs745896590 0.00062
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431 0.00058
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482 0.00056
NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=) rs763826959 0.00045
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771 0.00040
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531 0.00040
NM_003482.4(KMT2D):c.6235-6C>G rs373858319 0.00040
NM_152743.4(BRAT1):c.431G>A (p.Gly144Asp) rs199745325 0.00036
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437 0.00035
NM_000081.4(LYST):c.2946T>C (p.Tyr982=) rs145892183 0.00034
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr) rs375998236 0.00034
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_001999.4(FBN2):c.7012+6C>T rs749376421 0.00032
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=) rs143896591 0.00031
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728 0.00029
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00027
NM_000043.6(FAS):c.578A>G (p.Lys193Arg) rs150489856 0.00026
NM_001367624.2(ZNF469):c.10717G>A (p.Gly3573Arg) rs183149417 0.00026
NM_001142285.2(RPS24):c.484C>T (p.Arg162Trp) rs375150364 0.00025
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val) rs45466493 0.00022
NM_001367624.2(ZNF469):c.4507C>G (p.Leu1503Val) rs139043003 0.00022
NM_173354.5(SIK1):c.1246-5C>T rs371389145 0.00019
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00018
NM_000421.5(KRT10):c.1749-10A>G rs373397541 0.00017
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 0.00016
NM_014915.3(ANKRD26):c.1635+9T>C rs199590440 0.00016
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) rs185957513 0.00015
NM_001754.5(RUNX1):c.952T>G (p.Ser318Ala) rs545554349 0.00013
NM_005535.3(IL12RB1):c.1081C>A (p.Arg361=) rs150261140 0.00013
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) rs375205247 0.00012
NM_000393.5(COL5A2):c.906+9A>G rs761662868 0.00011
NM_002074.5(GNB1):c.402C>T (p.Arg134=) rs560214051 0.00011
NM_005720.4(ARPC1B):c.930C>T (p.Ser310=) rs747924128 0.00011
NM_018026.4(PACS1):c.1293+6C>T rs369639320 0.00011
NM_000489.6(ATRX):c.570T>G (p.Pro190=) rs188831993 0.00009
NM_001958.5(EEF1A2):c.183C>T (p.Asp61=) rs147929770 0.00008
NM_002693.3(POLG):c.3075G>A (p.Leu1025=) rs146404260 0.00008
NM_005051.3(QARS1):c.395G>C (p.Arg132Thr) rs530494890 0.00008
NM_001008537.3(NEXMIF):c.4338G>A (p.Lys1446=) rs200805356 0.00007
NM_000138.5(FBN1):c.4998C>G (p.Thr1666=) rs141925790 0.00006
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) rs1448428046 0.00006
NM_001365999.1(SZT2):c.8556A>C (p.Thr2852=) rs201027552 0.00006
NM_000090.4(COL3A1):c.3066A>G (p.Pro1022=) rs756680770 0.00004
NM_000138.5(FBN1):c.3462C>T (p.Ile1154=) rs144339604 0.00004
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp) rs192567788 0.00004
NM_000814.6(GABRB3):c.1269C>G (p.His423Gln) rs76962261 0.00004
NM_001099274.3(TINF2):c.315G>A (p.Arg105=) rs773958161 0.00004
NM_000814.6(GABRB3):c.969G>A (p.Glu323=) rs77608123 0.00003
NM_001191061.2(SLC25A22):c.654G>A (p.Ala218=) rs769899113 0.00003
NM_003331.5(TYK2):c.2463C>T (p.Ser821=) rs769673045 0.00002
NM_003482.4(KMT2D):c.7572G>A (p.Thr2524=) rs772878105 0.00002
NM_000548.5(TSC2):c.4719G>A (p.Glu1573=) rs766665967 0.00001
NM_014159.7(SETD2):c.3621T>C (p.Ser1207=) rs577048438 0.00001
NM_016938.5(EFEMP2):c.726T>C (p.Ser242=) rs1283578259 0.00001
NM_032776.3(JMJD1C):c.3027G>A (p.Gln1009=) rs1191109718 0.00001
NM_000574.5(CD55):c.717A>G (p.Glu239=) rs1654924770
NM_001110792.2(MECP2):c.641C>T (p.Ala214Val) rs587783138
NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=) rs369399624
NM_001282225.2(ADA2):c.570C>A (p.Thr190=) rs754279854
NM_001367624.2(ZNF469):c.11262C>T (p.Ser3754=) rs769834740
NM_001367624.2(ZNF469):c.4529TGC[1] (p.Leu1511del) rs555544144
NM_001382347.1(MYO5A):c.534A>C (p.Arg178=) rs748268948
NM_003482.4(KMT2D):c.5934C>T (p.Gly1978=) rs2120554214
NM_005263.5(GFI1):c.925-40CT[16] rs35896485
NM_006080.3(SEMA3A):c.1302_1303inv (p.Val435Ile)
NM_006118.4(HAX1):c.171C>T (p.Pro57=) rs749427265
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) rs138363524
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11]) rs750165040
NM_198253.3(TERT):c.2007G>A (p.Arg669=) rs1060504788

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