ClinVar Miner

List of variants reported as affects by OMIM

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ClinVar version:
Total variants: 159
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HGVS dbSNP
ABO, 7 NUCLEOTIDE SUBSTITUTIONS
AFP, -55C-A, PROMOTER
AQP3, IVS5, G-A, +1
B3GALT3, 1-BP INS, 537A
B3GALT3, 202C-T
CHIT1, 24-BP DUP
CHIT1, GLY354ARG, LEU385LEU, AND 4-BP DEL
EPOR, 5968_5975DUP
GYPA, GLY59ARG
HAVCR1, 6-AA INS
HP, -61A-C
HP, DEL
ICAM4, 10-BP DEL, NT346
NC_000012.12:g.88905969C>T rs642742
NC_000012.12:g.88934558T>C rs12821256
NG_015865.1(EGLN1):g.[8168C>G;8536G>C]
NM_000121.3(EPOR):c.1278C>G (p.Tyr426Ter) rs121917831
NM_000121.3(EPOR):c.1281dup (p.Ile428Tyrfs) rs1555716047
NM_000121.3(EPOR):c.1299_1305delCCAGCTC (p.Gln434Cysfs) rs1555716041
NM_000121.3(EPOR):c.1317G>A (p.Trp439Ter) rs121918116
NM_000121.3(EPOR):c.1460A>G (p.Asn487Ser) rs62638745
NM_000121.4(EPOR):c.1288dup (p.Asp430Glyfs) rs1555716045
NM_000148.3(FUT1):c.725T>G (p.Leu242Arg) rs28934588
NM_000148.3(FUT1):c.948C>G (p.Tyr316Ter) rs104894686
NM_000221.2(KHK):c.118G>A (p.Gly40Arg) rs104893643
NM_000221.2(KHK):c.127G>A (p.Ala43Thr) rs104893644
NM_000275.2(OCA2):c.1256G>A (p.Arg419Gln) rs1800407
NM_000275.2(OCA2):c.913C>T (p.Arg305Trp) rs1800401
NM_000342.3(SLC4A1):c.1438G>A (p.Glu480Lys) rs121912756
NM_000342.3(SLC4A1):c.1669G>A (p.Val557Met) rs121912743
NM_000342.3(SLC4A1):c.1972G>A (p.Glu658Lys) rs75731670
NM_000371.3(TTR):c.386C>T (p.Ala129Val) rs121918092
NM_000463.2(UGT1A1):c.1021C>T (p.Arg341Ter) rs72551349
NM_000463.2(UGT1A1):c.1198A>G (p.Asn400Asp) rs28934877
NM_000463.2(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000477.6(ALB):c.269T>C (p.Leu90Pro) rs77892378
NM_000477.6(ALB):c.725G>A (p.Arg242His) rs75002628
NM_000477.6(ALB):c.725G>C (p.Arg242Pro) rs75002628
NM_000502.4(EPX):c.1541dupG (p.Ile515Hisfs) rs397518446
NM_000502.5(EPX):c.857G>A (p.Arg286His) rs121434566
NM_000502.6(EPX):c.1942G>A (p.Asp648Asn) rs141055426
NM_000550.2(TYRP1):c.277C>T (p.Arg93Cys) rs387907171
NM_000574.4(CD55):c.261G>A (p.Trp87Ter) rs121909603
NM_000574.4(CD55):c.263C>A (p.Ser88Ter) rs1131690771
NM_000696.3(ALDH9A1):c.419G>C (p.Cys140Ser) rs121908986
NM_000884.2(IMPDH2):c.787C>T (p.Leu263Phe) rs121434586
NM_000893.4(KNG1):c.1126-538_1126-512delinsGGTGGTGGTGGTGGTGGTTTGTTTTTGG rs869320718
NM_000929.2(PLA2G5):c.133G>T (p.Gly45Cys) rs387906795
NM_000929.2(PLA2G5):c.145G>A (p.Gly49Ser) rs387906796
NM_000929.2(PLA2G5):c.157C>T (p.Arg53Ter) rs200954922
NM_000929.2(PLA2G5):c.185G>A (p.Trp62Ter)
NM_000929.2(PLA2G5):c.383delA (p.Gln128Argfs)
NM_001005216.3(OR2J3):c.337A>G (p.Thr113Ala) rs28757581
NM_001005216.3(OR2J3):c.677G>A (p.Arg226Gln) rs3749977
NM_001017922.1(ERMAP):c.139G>A (p.Glu47Lys) rs56047316
NM_001017922.1(ERMAP):c.178C>G (p.Pro60Ala) rs56136737
NM_001025389.1(AMPD3):c.1717C>T (p.Arg573Cys) rs3741040
NM_001102416.2(KNG1):c.1493del (p.Lys498Serfs) rs797044429
NM_001102416.3(KNG1):c.1216dup (p.His406Profs) rs797044430
NM_001104.3(ACTN3):c.1729C>T (p.Arg577Ter) rs1815739
NM_001134.2(AFP):c.-163G>A rs587776861
NM_001170.1(AQP7):c.791G>T (p.Gly264Val) rs62542743
NM_001211.5(BUB1B):c.1402-1G>T
NM_001211.5(BUB1B):c.1402-5A>G
NM_001211.5(BUB1B):c.1649G>A (p.Arg550Gln) rs28989187
NM_001211.5(BUB1B):c.1833delT (p.Phe611Leufs)
NM_001211.5(BUB1B):c.2208_2211dup (p.Ser738Valfs)
NM_001211.5(BUB1B):c.2386-11A>G
NM_001211.5(BUB1B):c.2441G>A (p.Arg814His) rs28989182
NM_001211.5(BUB1B):c.2530C>T (p.Leu844Phe) rs28989181
NM_001211.5(BUB1B):c.2763G>C (p.Gln921His) rs28989183
NM_001211.5(BUB1B):c.3035T>C (p.Leu1012Pro) rs28989185
NM_001211.5(BUB1B):c.580C>T (p.Arg194Ter) rs28989186
NM_001287762.2(SLC28A1):c.1528C>T (p.Arg510Cys)
NM_001287762.2(SLC28A1):c.1682G>A (p.Arg561Gln)
NM_001544.4(ICAM4):c.299A>G (p.Gln100Arg) rs77493670
NM_001735.2(C5):c.2653C>T (p.Arg885Cys) rs373359894
NM_001735.2(C5):c.2654G>A (p.Arg885His) rs56040400
NM_002101.4(GYPC):c.23A>G (p.Asn8Ser) rs121912760
NM_002101.4(GYPC):c.40C>T (p.Leu14Phe) rs121912761
NM_002101.4(GYPC):c.50_106del (p.Ala23_Met41del) rs1553469573
NM_002108.3(HAL):c.617G>C (p.Arg206Thr) rs121434327
NM_002108.3(HAL):c.623G>T (p.Arg208Leu) rs121434328
NM_002108.3(HAL):c.776C>T (p.Pro259Leu) rs121434329
NM_002108.3(HAL):c.965G>C (p.Arg322Pro) rs121434330
NM_002257.3(KLK1):c.230G>A (p.Arg77His) rs5515
NM_002300.7(LDHB):c.19A>G (p.Lys7Glu) rs118203897
NM_002300.7(LDHB):c.385A>C (p.Ser129Arg) rs118203896
NM_002300.7(LDHB):c.515G>A (p.Arg172His) rs118203895
NM_002300.7(LDHB):c.973T>C (p.Trp325Arg) rs267607212
NM_002335.3(LRP5):c.2220C>T (p.Asn740=) rs2306862
NM_002386.3(MC1R):c.451C>T (p.Arg151Cys) rs1805007
NM_002386.3(MC1R):c.478C>T (p.Arg160Trp) rs1805008
NM_002460.3(IRF4):c.492+386C>T rs12203592
NM_003465.2(CHIT1):c.220G>A (p.Glu74Lys) rs137852607
NM_003465.2(CHIT1):c.304G>A (p.Gly102Ser) rs2297950
NM_003612.4(SEMA7A):c.1040G>T (p.Arg347Leu) rs387907241
NM_003612.4(SEMA7A):c.1379G>A (p.Arg460His) rs56204206
NM_003612.4(SEMA7A):c.1381C>T (p.Arg461Cys) rs56001514
NM_003612.4(SEMA7A):c.619C>T (p.Arg207Trp) rs56367230
NM_003612.4(SEMA7A):c.620G>A (p.Arg207Gln) rs55637216
NM_003781.3(B3GALNT1):c.797A>C (p.Glu266Ala) rs28937582
NM_003781.3(B3GALNT1):c.811G>A (p.Gly271Arg) rs104893683
NM_004213.5(SLC28A1):c.1636T>C (p.Ser546Pro)
NM_004667.5(HERC2):c.1598+247A>G rs916977
NM_004827.2(ABCG2):c.1111_1112del (p.Thr371Leufs) rs387906869
NM_004827.2(ABCG2):c.34G>A (p.Val12Met) rs2231137
NM_004827.2(ABCG2):c.736C>T (p.Arg246Ter) rs200190472
NM_004827.2(ABCG2):c.791_792del (p.Leu264Hisfs) rs387906870
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_005143.4(HP):c.740T>C (p.Ile247Thr) rs104894517
NM_005475.2(SH2B3):c.622G>T (p.Glu208Ter) rs202080221
NM_005689.3(ABCB6):c.1690_1691del (p.Met564Valfs) rs387906908
NM_005689.3(ABCB6):c.1942C>T (p.Arg648Ter) rs376664522
NM_005689.3(ABCB6):c.1985_1986del (p.Leu662Profs) rs387906909
NM_005689.3(ABCB6):c.2256+2T>G
NM_005689.3(ABCB6):c.717G>A (p.Trp239Ter) rs148458820
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp) rs149202834
NM_007101.3(SARDH):c.1540C>T (p.Arg514Ter) rs140559739
NM_007101.3(SARDH):c.211G>T (p.Val71Phe) rs397514504
NM_007101.3(SARDH):c.2167C>T (p.Arg723Ter) rs149391396
NM_007101.3(SARDH):c.860C>T (p.Pro287Leu) rs149481147
NM_013276.2(SHPK):c.211G>T (p.Glu71Ter) rs748544120
NM_013276.2(SHPK):c.355C>T (p.Arg119Ter) rs144071313
NM_013324.5(CISH):c.-524T>A rs414171
NM_016286.3(DCXR):c.52+1G>A rs375243154
NM_016286.3(DCXR):c.583delC (p.His195Thrfs)
NM_016945.2(TAS2R16):c.516T>G (p.Asn172Lys) rs846664
NM_017436.6(A4GALT):c.1029dup (p.Thr344Hisfs) rs387906280
NM_017436.6(A4GALT):c.240_242del (p.Phe81del) rs387906279
NM_017436.6(A4GALT):c.548T>A (p.Met183Lys) rs74315453
NM_017436.6(A4GALT):c.560G>A (p.Gly187Asp) rs28940572
NM_017436.6(A4GALT):c.631C>G (p.Gln211Glu) rs397514502
NM_017436.6(A4GALT):c.752C>T (p.Pro251Leu) rs28940571
NM_017436.6(A4GALT):c.783G>A (p.Trp261Ter) rs74315454
NM_020469.2(ABO):c.1061delC (p.Pro354fs) rs56392308
NM_020469.2(ABO):c.261delG (p.Thr88Profs) rs1556058284
NM_020469.3(ABO):c.700C>G (p.Pro234Ala) rs55722397
NM_021071.3(ART4):c.144+2T>C rs587777833
NM_021071.3(ART4):c.145-2A>G rs587777831
NM_021071.3(ART4):c.343_350del (p.Met115Hisfs) rs587777832
NM_021071.3(ART4):c.442C>T (p.Gln148Ter) rs56340844
NM_021071.3(ART4):c.793G>A (p.Asp265Asn) rs11276
NM_030762.2(BHLHE41):c.1151C>G (p.Pro384Arg) rs121912617
NM_031900.3(AGXT2):c.418G>A (p.Val140Ile) rs37369
NM_032583.3(ABCC11):c.3939_3965del (p.Asp1313_Arg1321del) rs387906296
NM_033453.3(ITPA):c.124+21A>C rs7270101
NM_033453.3(ITPA):c.94C>A (p.Pro32Thr) rs1127354
NM_145870.2(GSTZ1):c.259C>T (p.Arg87Ter) rs747265163
NM_145870.2(GSTZ1):c.295G>A (p.Val99Met) rs140540096
NM_145870.2(GSTZ1):c.449C>T (p.Ala150Val) rs199552988
NM_145870.2(GSTZ1):c.68-12G>A rs776678047
NM_198589.2(BSG):c.274G>A (p.Glu92Lys) rs104894669
OCA2, IVS1, HAPLOTYPE 1
PROZ, GLU30GLN
SMIM1, 17-BP DEL, NT64
TTR, ALA109THR
UGT1A1*28 rs3064744
UGT1A1*6 rs4148323

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