ClinVar Miner

List of variants reported as affects by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 211
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004667.6(HERC2):c.1598+247A>G rs916977 0.65262
NC_000012.12:g.88905969C>T rs642742 0.37866
NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter) rs1815739 0.36260
NM_001005216.4(OR2J3):c.677G>A (p.Arg226Gln) rs3749977 0.34276
NM_021071.4(ART4):c.793G>A (p.Asp265Asn) rs11276 0.33901
NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser) rs2297950 0.29831
NM_031900.4(AGXT2):c.418G>A (p.Val140Ile) rs37369 0.25343
NM_001005216.4(OR2J3):c.337A>G (p.Thr113Ala) rs28757581 0.18394
NM_003465.3(CHIT1):c.1049_1072dup (p.Trp358Ter) rs3831317 0.16576
NM_001159387.2(B4GALNT2):c.1216T>C (p.Cys406Arg) rs7224888 0.12829
NM_000150.4(FUT6):c.739G>A (p.Glu247Lys) rs17855739 0.11967
NM_002335.4(LRP5):c.2220C>T (p.Asn740=) rs2306862 0.11683
NM_033453.4(ITPA):c.124+21A>C rs7270101 0.09874
NM_002460.4(IRF4):c.492+386C>T rs12203592 0.08958
NM_016945.3(TAS2R16):c.516T>G (p.Asn172Lys) rs846664 0.08801
NC_000012.12:g.88934558T>C rs12821256 0.08234
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401 0.07659
NM_004827.3(ABCG2):c.34G>A (p.Val12Met) rs2231137 0.07216
NM_020208.4(SLC6A20):c.596C>T (p.Thr199Met) rs17279437 0.06722
NM_033453.4(ITPA):c.94C>A (p.Pro32Thr) rs1127354 0.06104
NM_002257.4(KLK1):c.230G>A (p.Arg77His) rs5515 0.05236
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) rs1800407 0.04917
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_004213.5(SLC28A1):c.1528C>T (p.Arg510Cys) rs2242047 0.04632
NM_005143.5(HP):c.-91A>C rs5471 0.03896
NM_001170.1(AQP7):c.791G>T (p.Gly264Val) rs62542743 0.03443
NM_001142864.4(PIEZO1):c.6734G>A (p.Arg2245Gln) rs2290901 0.01007
NM_001159387.2(B4GALNT2):c.1387C>T (p.Arg463Trp) rs61743617 0.00910
UGT1A1*6 rs4148323 0.00891
NM_181776.3(SLC36A2):c.260G>T (p.Gly87Val) rs77010315 0.00869
NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser) rs62638745 0.00627
NM_001544.5(ICAM4):c.299A>G (p.Gln100Arg) rs77493670 0.00544
NM_004213.5(SLC28A1):c.1636T>C (p.Ser546Pro) rs45584739 0.00382
NM_003465.3(CHIT1):c.220G>A (p.Glu74Lys) rs137852607 0.00342
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp) rs149202834 0.00166
NM_001159387.2(B4GALNT2):c.1127A>G (p.Gln376Arg) rs148441237 0.00127
NM_001142864.4(PIEZO1):c.7180G>A (p.Gly2394Ser) rs201950081 0.00109
NM_001017922.1(ERMAP):c.139G>A (p.Glu47Lys) rs56047316 0.00078
NM_013276.4(SHPK):c.355C>T (p.Arg119Ter) rs144071313 0.00058
NM_145870.3(GSTZ1):c.295G>A (p.Val99Met) rs140540096 0.00051
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln) rs28989187 0.00049
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys) rs528448732 0.00048
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_001017922.2(ERMAP):c.178C>G (p.Pro60Ala) rs56136737 0.00045
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His) rs28989183 0.00029
NM_003612.5(SEMA7A):c.620G>A (p.Arg207Gln) rs55637216 0.00029
NM_005143.5(HP):c.740T>C (p.Ile247Thr) rs104894517 0.00025
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys) rs75731670 0.00024
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_000550.3(TYRP1):c.277C>T (p.Arg93Cys) rs387907171 0.00018
NM_016286.4(DCXR):c.52+1G>A rs375243154 0.00015
NM_005689.4(ABCB6):c.717G>A (p.Trp239Ter) rs148458820 0.00014
NM_004827.3(ABCG2):c.736C>T (p.Arg246Ter) rs200190472 0.00013
NM_001735.3(C5):c.2654G>A (p.Arg885His) rs56040400 0.00011
NM_003612.5(SEMA7A):c.1381C>T (p.Arg461Cys) rs56001514 0.00011
NM_003781.4(B3GALNT1):c.202C>T (p.Arg68Ter) rs200235398 0.00010
NM_000502.6(EPX):c.857G>A (p.Arg286His) rs121434566 0.00009
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353 0.00009
NM_001025389.2(AMPD3):c.1717C>T (p.Arg573Cys) rs3741040 0.00008
NM_001735.3(C5):c.2653C>T (p.Arg885Cys) rs373359894 0.00008
NM_000502.6(EPX):c.1942G>A (p.Asp648Asn) rs141055426 0.00006
NM_000684.3(ADRB1):c.560C>T (p.Ala187Val) rs776439595 0.00006
NM_001134707.2(SARDH):c.860C>T (p.Pro287Leu) rs149481147 0.00006
NM_002101.5(GYPC):c.23A>G (p.Asn8Ser) rs121912760 0.00006
NM_003612.5(SEMA7A):c.619C>T (p.Arg207Trp) rs56367230 0.00006
NM_000371.4(TTR):c.385G>A (p.Ala129Thr) rs267607159 0.00005
NM_000520.6(HEXA):c.460-1G>T rs764343937 0.00005
NM_003781.4(B3GALNT1):c.811G>A (p.Gly271Arg) rs104893683 0.00005
NM_004827.3(ABCG2):c.791_792del (p.Leu264fs) rs387906870 0.00005
NM_017436.7(A4GALT):c.548T>A (p.Met183Lys) rs74315453 0.00005
NM_017436.7(A4GALT):c.752C>T (p.Pro251Leu) rs28940571 0.00005
NM_145870.3(GSTZ1):c.449C>T (p.Ala150Val) rs199552988 0.00005
NM_000371.4(TTR):c.386C>T (p.Ala129Val) rs121918092 0.00004
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962 0.00004
NM_000929.3(PLA2G5):c.157C>T (p.Arg53Ter) rs200954922 0.00004
NM_001081.4(CUBN):c.10852C>T (p.Arg3618Ter) rs750303687 0.00004
NM_001134707.2(SARDH):c.1540C>T (p.Arg514Ter) rs140559739 0.00004
NM_001384359.1(FUT1):c.948C>G (p.Tyr316Ter) rs104894686 0.00004
NM_002101.5(GYPC):c.40C>T (p.Leu14Phe) rs121912761 0.00004
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys) rs121907958 0.00003
NM_001081.4(CUBN):c.8465C>T (p.Pro2822Leu) rs776663892 0.00003
NM_001211.6(BUB1B):c.2386-11A>G rs751421137 0.00003
NM_001728.4(BSG):c.622G>A (p.Glu208Lys) rs104894669 0.00003
NM_005689.4(ABCB6):c.1942C>T (p.Arg648Ter) rs376664522 0.00003
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter) rs72551349 0.00002
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_000929.3(PLA2G5):c.383del (p.Gln128fs) rs766454085 0.00002
NM_001134707.2(SARDH):c.2167C>T (p.Arg723Ter) rs149391396 0.00002
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe) rs28989181 0.00002
NM_002108.4(HAL):c.776C>T (p.Pro259Leu) rs121434329 0.00002
NM_002300.8(LDHB):c.19A>G (p.Lys7Glu) rs118203897 0.00002
NM_145870.3(GSTZ1):c.259C>T (p.Arg87Ter) rs747265163 0.00002
NM_181776.3(SLC36A2):c.164+1G>A rs371203963 0.00002
NM_000342.4(SLC4A1):c.1438G>A (p.Glu480Lys) rs121912756 0.00001
NM_000342.4(SLC4A1):c.1669G>A (p.Val557Met) rs121912743 0.00001
NM_000463.3(UGT1A1):c.1198A>G (p.Asn400Asp) rs28934877 0.00001
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963 0.00001
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val) rs28940871 0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000520.6(HEXA):c.1A>G (p.Met1Val) rs121907965 0.00001
NM_000520.6(HEXA):c.346+1G>C rs797044432 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NM_000929.3(PLA2G5):c.145G>A (p.Gly49Ser) rs387906796 0.00001
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His) rs28989182 0.00001
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro) rs28989185 0.00001
NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter) rs28989186 0.00001
NM_002108.4(HAL):c.617G>C (p.Arg206Thr) rs121434327 0.00001
NM_002300.8(LDHB):c.515G>A (p.Arg172His) rs118203895 0.00001
NM_003612.5(SEMA7A):c.1379G>A (p.Arg460His) rs56204206 0.00001
NM_004213.5(SLC28A1):c.1682G>A (p.Arg561Gln) rs149246522 0.00001
NM_005689.4(ABCB6):c.1690_1691del (p.Met564fs) rs387906908 0.00001
NM_020469.3(ABO):c.700C>G (p.Pro234Ala) rs55722397 0.00001
NM_021071.4(ART4):c.144+2T>C rs587777833 0.00001
NM_021071.4(ART4):c.145-2A>G rs587777831 0.00001
NM_030762.3(BHLHE41):c.1084T>C (p.Tyr362His) rs1591838266 0.00001
NM_145870.3(GSTZ1):c.68-12G>A rs776678047 0.00001
ABO*B
HAVCR1, 6-AA INS
NC_000004.12:g.73436164C>A rs1719498256
NC_000016.10:g.(?_72054504)_(?_72076977)del
NG_015865.1(EGLN1):g.[8168C>G;8536G>C]
NM_000121.4(EPOR):c.1278C>G (p.Tyr426Ter) rs121917831
NM_000121.4(EPOR):c.1281dup (p.Ile428fs) rs1555716047
NM_000121.4(EPOR):c.1283_1289dup (p.Ser432fs) rs2144694000
NM_000121.4(EPOR):c.1288dup (p.Asp430fs) rs1555716045
NM_000121.4(EPOR):c.1299_1305del (p.Gln434fs) rs1555716041
NM_000121.4(EPOR):c.1317G>A (p.Trp439Ter) rs121918116
NM_000275.3(OCA2):c.[-22+132=;-22+5657T>G-22+8550=]
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000502.4(EPX):c.1541dup rs397518446
NM_000520.4(HEXA):c.-2564_253+5128delinsG
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.116T>G (p.Leu39Arg) rs121907979
NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter) rs267606862
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser) rs121907978
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.6(HEXA):c.1510del (p.Arg504fs) rs797044433
NM_000520.6(HEXA):c.173G>A (p.Cys58Tyr) rs387906949
NM_000520.6(HEXA):c.346+1G>A rs797044432
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg) rs121907975
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer) rs1057519458
NM_000520.6(HEXA):c.477_478del (p.Glu160fs)
NM_000520.6(HEXA):c.533G>T (p.Arg178Leu) rs28941770
NM_000520.6(HEXA):c.540C>G (p.Tyr180Ter) rs121907969
NM_000520.6(HEXA):c.546dup (p.Leu183fs) rs1595801740
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe) rs121907961
NM_000520.6(HEXA):c.632T>C (p.Phe211Ser) rs121907974
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter) rs121907964
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.929_930del (p.Ser310fs) rs751248523
NM_000574.5(CD55):c.261G>A (p.Trp87Ter) rs121909603
NM_000574.5(CD55):c.263C>A (p.Ser88Ter) rs1131690771
NM_000696.4(ALDH9A1):c.419G>C (p.Cys140Ser) rs121908986
NM_000884.3(IMPDH2):c.787C>T (p.Leu263Phe) rs121434586
NM_000929.3(PLA2G5):c.133G>T (p.Gly45Cys) rs387906795
NM_000929.3(PLA2G5):c.185G>A (p.Trp62Ter) rs746408116
NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter) rs1564492988
NM_001102416.3(KNG1):c.1126-538_1126-512delinsGGTGGTGGTGGTGGTGGTTTGTTTTTGG rs869320718
NM_001102416.3(KNG1):c.1216dup (p.His406fs) rs797044430
NM_001102416.3(KNG1):c.1493del (p.Lys498fs) rs797044429
NM_001134.2(AFP):c.-163G>A rs587776861
NM_001134707.2(SARDH):c.211G>T (p.Val71Phe) rs397514504
NM_001142864.4(PIEZO1):c.7219G>A (p.Glu2407Lys)
NM_001142864.4(PIEZO1):c.7219G>C (p.Glu2407Gln)
NM_001211.6(BUB1B):c.1402-1G>T rs1566824774
NM_001211.6(BUB1B):c.1402-5A>G rs1566824771
NM_001211.6(BUB1B):c.1833del (p.Phe611fs) rs1566826570
NM_001211.6(BUB1B):c.2208_2211dup (p.Ser738fs) rs1392909108
NM_001288583.2(SMIM1):c.64_80del (p.Ser22fs) rs566629828
NM_001370497.1(ABCC11):c.3939_3965del (p.Asp1313_Arg1321del) rs387906296
NM_001384359.1(FUT1):c.725T>G (p.Leu242Arg) rs28934588
NM_001544.5(ICAM4):c.346_355del (p.Thr116fs)
NM_002108.4(HAL):c.623G>T (p.Arg208Leu) rs121434328
NM_002108.4(HAL):c.965G>C (p.Arg322Pro) rs121434330
NM_002300.8(LDHB):c.385A>C (p.Ser129Arg) rs118203896
NM_002300.8(LDHB):c.973T>C (p.Trp325Arg) rs267607212
NM_003465.3(CHIT1):c.[1060G>A;1155G>A1156+6_1156+9del]
NM_003612.5(SEMA7A):c.1040G>T (p.Arg347Leu) rs387907241
NM_003781.4(B3GALNT1):c.537dup (p.Asp180fs) rs751995528
NM_003781.4(B3GALNT1):c.797A>C (p.Glu266Ala) rs28937582
NM_003891.3(PROZ):c.208G>C (p.Glu70Gln) rs3024778
NM_004827.3(ABCG2):c.1111_1112del (p.Thr371fs) rs387906869
NM_004925.5(AQP3):c.710+1G>A rs1347380973
NM_005475.3(SH2B3):c.622G>T (p.Glu208Ter) rs202080221
NM_005689.4(ABCB6):c.1985_1986del (p.Leu662fs) rs387906909
NM_005689.4(ABCB6):c.2256+2T>G rs1559234527
NM_006563.5(KLF1):c.862A>T (p.Lys288Ter) rs267607202
NM_013276.4(SHPK):c.211G>T (p.Glu71Ter) rs748544120
NM_015136.3(STAB1):c.1042G>A (p.Glu348Lys)
NM_015136.3(STAB1):c.5612_5646delinsG (p.Ala1871fs)
NM_015136.3(STAB1):c.6730T>C (p.Ser2244Pro)
NM_015136.3(STAB1):c.7016A>G (p.Tyr2339Cys)
NM_015136.3(STAB1):c.7328G>A (p.Trp2443Ter)
NM_016286.4(DCXR):c.583del (p.His195fs) rs747887427
NM_016815.4(GYPC):c.50-3609_50-3553del
NM_017436.7(A4GALT):c.1029dup (p.Thr344fs) rs387906280
NM_017436.7(A4GALT):c.238TTC[1] (p.Phe81del) rs387906279
NM_017436.7(A4GALT):c.560G>A (p.Gly187Asp) rs28940572
NM_017436.7(A4GALT):c.783G>A (p.Trp261Ter) rs74315454
NM_020469.2(ABO):c.261delG (p.Thr88Profs) rs1556058284
NM_020469.3(ABO):c.1061del (p.Pro354fs) rs56392308
NM_021071.4(ART4):c.343_350del (p.Met115fs) rs587777832
NM_021071.4(ART4):c.442C>T (p.Gln148Ter) rs56340844
NM_030762.3(BHLHE41):c.1151C>G (p.Pro384Arg) rs121912617
UGT1A1*28 rs3064744

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.