ClinVar Miner

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

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Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.*6C>G rs12079762 0.04454
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_000359.3(TGM1):c.420A>G (p.Ile140Met) rs139208806 0.00008
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618 0.00006
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp) rs149988492 0.00006
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter) rs754502950 0.00003
NM_002485.5(NBN):c.897-2A>T rs864622090 0.00003
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119 0.00003
NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter) rs368482584 0.00002
NM_000065.5(C6):c.928-1G>C rs1432520854 0.00001
NM_000071.3(CBS):c.828+1G>A rs763290176 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln) rs62644503 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys) rs1135401736 0.00001
NM_001101.5(ACTB):c.94C>T (p.Pro32Ser) rs779839358 0.00001
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773 0.00001
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000089.4(COL1A2):c.432+2T>A rs2115876295
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter) rs1588621711
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg) rs2141306513
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly) rs1131691317
NM_000138.5(FBN1):c.3337+1dup rs1566909762
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser) rs397515791
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly) rs397515806
NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter) rs71467648
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.5(FBN1):c.6563T>G (p.Phe2188Cys)
NM_000138.5(FBN1):c.6569G>A (p.Cys2190Tyr)
NM_000138.5(FBN1):c.6749A>T (p.Glu2250Val) rs2043018196
NM_000162.5(GCK):c.122_123insAGGAGATG (p.Met41fs)
NM_000206.3(IL2RG):c.374A>G (p.Tyr125Cys) rs2092261313
NM_000206.3(IL2RG):c.74del (p.Thr25fs) rs2147751859
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) rs727503499
NM_000368.5(TSC1):c.1033del (p.Thr345fs) rs1564488264
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000531.6(OTC):c.833_864delinsCC (p.Leu278_Met288delinsPro)
NM_000540.3(RYR1):c.5988C>T (p.Arg1996=) rs193922787
NM_000548.5(TSC2):c.225+1G>A rs1567387207
NM_000548.5(TSC2):c.2318dup (p.Leu773fs) rs1596350476
NM_000548.5(TSC2):c.2356-4_2356-3delinsAG
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr) rs45471896
NM_000969.5(RPL5):c.122_144del (p.Lys41fs) rs2100676969
NM_001005242.3(PKP2):c.155dup (p.Ser53fs) rs958681660
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001061.7(TBXAS1):c.580_581del (p.Ala194fs) rs760698812
NM_001083962.2(TCF4):c.1118dup (p.Pro373_Asn374insTer) rs1600404795
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met) rs374686479
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) rs1060502176
NM_001270508.2(TNFAIP3):c.1096G>T (p.Glu366Ter)
NM_001277115.2(DNAH11):c.13523_13524insCTGGAGTGGCTCTGCTTCTAG (p.Ala4508_Gly4509insTrpSerGlySerAlaSerSer)
NM_001277115.2(DNAH11):c.13523_13543dup (p.Ala4508_Leu4514dup) rs1784814248
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter) rs780546933
NM_001290043.2(TAP2):c.217_218del (p.Thr73fs) rs1321880935
NM_001323289.2(CDKL5):c.1147_1151del (p.Thr383fs) rs1569219331
NM_001364905.1(LRBA):c.6447_6448del (p.Arg2149fs) rs1561254290
NM_001737.5(C9):c.1039_1042del (p.Ser347fs) rs1027370764
NM_001999.4(FBN2):c.3424T>G (p.Cys1142Gly) rs1750918931
NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys) rs138303817
NM_002582.4(PARN):c.758_759del (p.Glu253fs) rs2151787383
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_002880.4(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_003239.5(TGFB3):c.927-1G>C rs767548724
NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr) rs1943100257
NM_003482.4(KMT2D):c.15341A>C (p.His5114Pro) rs1565759674
NM_003587.5(DHX16):c.2033A>G (p.Glu678Gly)
NM_003924.4(PHOX2B):c.745_746insGGCGGCCGCGGC (p.Ala249delinsGlyArgProArgPro)
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter) rs761796175
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
NM_005633.4(SOS1):c.1430A>G (p.Gln477Arg) rs730881044
NM_006073.4(TRDN):c.1051+1G>A rs535908547
NM_015192.4(PLCB1):c.2036_2039del (p.Ser679fs) rs1568577135
NM_017827.4(SARS2):c.603A>G (p.Gln201=)
NM_032415.7(CARD11):c.377G>A (p.Gly126Asp) rs1423056320
NM_145239.3(PRRT2):c.304del (p.Glu102fs) rs1567379016
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_177438.3(DICER1):c.3093+1G>A

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