ClinVar Miner

List of variants studied for acute disease by OMIM

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_000690.4(ALDH2):c.1510G>A (p.Glu504Lys) rs671 0.00596
NM_001571.6(IRF3):c.829G>A (p.Ala277Thr) rs143769046 0.00460
NM_182919.4(TICAM1):c.1702G>A (p.Ala568Thr) rs143679494 0.00269
NM_003265.3(TLR3):c.889C>G (p.Leu297Val) rs35311343 0.00165
NM_003265.3(TLR3):c.2224C>T (p.Leu742Phe) rs147431766 0.00153
NM_145725.3(TRAF3):c.352C>T (p.Arg118Trp) rs143813189 0.00147
NM_022829.6(SLC13A3):c.1016+3A>G rs199961976 0.00078
NM_182919.4(TICAM1):c.557C>T (p.Ser186Leu) rs146550489 0.00063
NM_003265.3(TLR3):c.2600G>A (p.Arg867Gln) rs199768900 0.00061
NM_003265.3(TLR3):c.1660C>T (p.Pro554Ser) rs121434431 0.00053
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_000542.5(SFTPB):c.706C>T (p.Arg236Cys) rs137853202 0.00016
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr) rs755855285 0.00014
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_001349206.2(LPIN1):c.1270C>T (p.Arg424Ter) rs119480072 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp) rs118204101 0.00004
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) rs118204109 0.00004
NM_003265.3(TLR3):c.1079T>C (p.Leu360Pro) rs768091235 0.00003
NM_003265.3(TLR3):c.597A>T (p.Leu199Phe) rs753482575 0.00003
NM_001571.6(IRF3):c.854G>A (p.Arg285Gln) rs750526659 0.00002
NM_018006.5(TRMU):c.1102-3C>G rs753039116 0.00002
NM_000190.4(HMBS):c.163G>T (p.Ala55Ser) rs118204106 0.00001
NM_000190.4(HMBS):c.346C>T (p.Arg116Trp) rs118204094 0.00001
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr) rs118204113 0.00001
NM_000190.4(HMBS):c.91G>A (p.Ala31Thr) rs118204104 0.00001
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) rs752746786 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_020680.4(SCYL1):c.314C>T (p.Ala105Val) rs942522644 0.00001
NM_182919.4(TICAM1):c.421C>T (p.Arg141Ter) rs387907307 0.00001
FLT3, INTERNAL TANDEM DUP
NG_008093.1:g.9237_9238insAluYa59225_9237dup
NM_000051.4(ATM):c.5044G>C (p.Asp1682His) rs121434217
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter) rs121434223
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000098.2(CPT2):c.[1055T>G;1102G>A]
NM_000190.4(HMBS):c.100C>A (p.Gln34Lys) rs118204105
NM_000190.4(HMBS):c.174del (p.Thr59fs) rs1565754285
NM_000190.4(HMBS):c.181dup (p.Asp61fs) rs1565754296
NM_000190.4(HMBS):c.211-1G>A rs1565754452
NM_000190.4(HMBS):c.219_220del (p.Ser75fs) rs1592214498
NM_000190.4(HMBS):c.266+1G>C rs1565754565
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg) rs118204107
NM_000190.4(HMBS):c.445C>T (p.Arg149Ter) rs118204120
NM_000190.4(HMBS):c.446G>A (p.Arg149Gln) rs118204098
NM_000190.4(HMBS):c.463C>T (p.Gln155Ter) rs118204097
NM_000190.4(HMBS):c.499-1G>A rs1565756481
NM_000190.4(HMBS):c.500G>T (p.Arg167Leu) rs118204095
NM_000190.4(HMBS):c.518G>A (p.Arg173Gln) rs118204096
NM_000190.4(HMBS):c.530T>G (p.Leu177Arg) rs118204108
NM_000190.4(HMBS):c.593G>A (p.Trp198Ter) rs118204100
NM_000190.4(HMBS):c.612G>T (p.Gln204His) rs1592217847
NM_000190.4(HMBS):c.647G>A (p.Gly216Asp) rs118204116
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000190.4(HMBS):c.730_731del (p.Leu244fs) rs1565757839
NM_000190.4(HMBS):c.734T>G (p.Leu245Arg) rs118204099
NM_000190.4(HMBS):c.734_741dup (p.Ile248fs) rs1565757857
NM_000190.4(HMBS):c.739T>C (p.Cys247Arg) rs118204111
NM_000190.4(HMBS):c.748G>A (p.Glu250Lys) rs118204112
NM_000190.4(HMBS):c.755C>T (p.Ala252Val) rs118204114
NM_000190.4(HMBS):c.766C>A (p.His256Asn) rs118204115
NM_000190.4(HMBS):c.771+1G>C rs1565758008
NM_000190.4(HMBS):c.771G>A (p.Leu257=) rs1555206170
NM_000190.4(HMBS):c.77G>A (p.Arg26His) rs118204103
NM_000190.4(HMBS):c.847_848del (p.Trp283fs) rs1592220835
NM_000190.4(HMBS):c.849G>A (p.Trp283Ter) rs118204117
NM_000190.4(HMBS):c.900del (p.His300fs) rs1565758825
NM_000190.4(HMBS):c.913-1G>A rs1946325053
NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000542.5(SFTPB):c.361delinsGAA (p.Pro121fs) rs35328240
NM_000542.5(SFTPB):c.365del (p.Leu122fs)
NM_000542.5(SFTPB):c.465G>T (p.Gly155=) rs1553380888
NM_001349206.2(LPIN1):c.1549+2T>C rs730880306
NM_001349206.2(LPIN1):c.2509C>T (p.Arg837Ter) rs119480073
NM_001349206.2(LPIN1):c.643G>T (p.Glu215Ter) rs119480071
NM_001987.5(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly) rs587776710
NM_001987.5(ETV6):c.226G>T (p.Glu76Ter) rs121434637
NM_002049.4(GATA1):c.154_173dup (p.Ala59fs) rs398124628
NM_002074.5(GNB1):c.227A>G (p.Asp76Gly) rs869312821
NM_002467.6(MYC):c.162G>C (p.Glu54Asp) rs121918684
NM_002467.6(MYC):c.214C>T (p.Pro72Ser) rs28933407
NM_002467.6(MYC):c.220C>G (p.Pro74Ala) rs121918685
NM_002467.6(MYC):c.302A>C (p.Asn101Thr) rs121918683
NM_002520.7(NPM1):c.860_863dup (p.Trp288fs) rs587776806
NM_002520.7(NPM1):c.863_864insCATG (p.Trp288fs) rs1554138188
NM_002520.7(NPM1):c.863_864insCCTG (p.Trp288fs) rs1554138189
NM_002520.7(NPM1):c.863_864insCGTG (p.Trp288fs) rs1554138188
NM_003265.2(TLR3):c.[2228G>A;2432G>T]
NM_003265.3(TLR3):c.2039C>T (p.Pro680Leu) rs2150068111
NM_003265.3(TLR3):c.2236G>T (p.Glu746Ter) rs1554064929
NM_003921.5(BCL10):c.136dup (p.Ile46fs) rs387906351
NM_004119.3(FLT3):c.1777_1779del (p.Asp593del) rs587776834
NM_004119.3(FLT3):c.2503G>A (p.Asp835Asn) rs121913488
NM_004119.3(FLT3):c.2503G>C (p.Asp835His) rs121913488
NM_004119.3(FLT3):c.2503G>T (p.Asp835Tyr) rs121913488
NM_004119.3(FLT3):c.2503_2505del (p.Asp835del) rs121913486
NM_004119.3(FLT3):c.2504A>T (p.Asp835Val) rs121909646
NM_004119.3(FLT3):c.2505T>A (p.Asp835Glu) rs121913487
NM_004119.3(FLT3):c.2520_2521insGGATCC (p.Ser840_Asn841insGlySer) rs398122514
NM_004364.5(CEBPA):c.115_121del (p.Pro39fs) rs587776848
NM_004364.5(CEBPA):c.148G>T (p.Glu50Ter) rs121912791
NM_004364.5(CEBPA):c.211_214dup (p.Ala72fs) rs587776849
NM_004364.5(CEBPA):c.251A>T (p.His84Leu) rs28931590
NM_004364.5(CEBPA):c.68del (p.Pro23fs) rs137852728
NM_004364.5(CEBPA):c.925_951dup (p.Glu309_Leu317dup) rs1555741967
NM_004364.5(CEBPA):c.935_991dup (p.Gln312_Gln330dup) rs1555741948
NM_004972.4(JAK2):c.1821G>C (p.Lys607Asn) rs121912472
NM_006267.5(RANBP2):c.1958C>T (p.Thr653Ile) rs121434503
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val) rs121434504
NM_016734.3(PAX5):c.239C>G (p.Pro80Arg)
NM_018006.5(TRMU):c.229T>C (p.Tyr77His) rs118203990
NM_018006.5(TRMU):c.2T>A (p.Met1Lys) rs118203992
NM_018006.5(TRMU):c.706-1G>A rs778799889
NM_018006.5(TRMU):c.815G>A (p.Gly272Asp) rs118203991
NM_020680.4(SCYL1):c.1433A>G (p.Asp478Gly) rs1554969925
NM_020680.4(SCYL1):c.169C>T (p.Gln57Ter) rs1554967681
NM_020680.4(SCYL1):c.1882C>T (p.Gln628Ter) rs1554970375
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022829.6(SLC13A3):c.1642G>A (p.Gly548Ser) rs1568904872
NM_022829.6(SLC13A3):c.761C>A (p.Ala254Asp) rs1568927501
NM_030930.4(UNC93B1):c.1038_1041del (p.Phe346fs) rs759883057
NM_030930.4(UNC93B1):c.781G>A (p.Gly261Ser) rs780094017
NM_033360.4(KRAS):c.27_29dup (p.Gly10dup) rs606231202
NM_138761.4(BAX):c.115_121del (p.Gly39fs) rs398122840
NM_138761.4(BAX):c.199G>A (p.Gly67Arg) rs398122513
NM_145693.2(LPIN1):c.2295-?_2513+?del
NM_182919.4(TICAM1):c.749C>T (p.Pro250Leu) rs1555730283
SFTPB, 1-BP DEL, 457C

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