ClinVar Miner

List of variants reported as pathogenic by Undiagnosed Diseases Network, NIH

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 273
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met) rs117475706 0.00292
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_198076.6(COX20):c.157+3G>C rs367956888 0.00066
NM_001086521.2(NDUFAF8):c.195+271C>T rs745332456 0.00063
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_004130.4(GYG1):c.143+3G>C rs370652040 0.00016
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_023936.2(MRPS34):c.322-10G>A rs563189672 0.00015
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) rs201650281 0.00013
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter) rs201943194 0.00008
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_005198.5(CHKB):c.151C>T (p.Gln51Ter) rs373091820 0.00006
NM_016011.5(MECR):c.830+2dup rs756421370 0.00006
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) rs746882521 0.00005
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter) rs781939614 0.00004
NM_005994.4(TBX2):c.59G>A (p.Arg20Gln) rs1364709483 0.00004
NM_198076.6(COX20):c.41A>G (p.Lys14Arg) rs1057521790 0.00004
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg) rs747268471 0.00003
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) rs62516141 0.00003
NM_000308.4(CTSA):c.497del (p.Glu166fs) rs1159382283 0.00003
NM_017613.4(DONSON):c.670C>T (p.Pro224Ser) rs1028163227 0.00003
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter) rs267608688 0.00003
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys) rs772887102 0.00003
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn) rs140614802 0.00003
NM_176787.5(PIGN):c.1251+1G>A rs1462805697 0.00003
NM_001082971.2(DDC):c.446G>C (p.Ser149Thr) rs971183744 0.00002
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu) rs267606959 0.00002
NM_017613.4(DONSON):c.809A>G (p.Tyr270Cys) rs367904759 0.00002
NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser) rs781565158 0.00002
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557 0.00001
NM_000492.4(CFTR):c.870-2A>G rs1290078234 0.00001
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351 0.00001
NM_001114753.3(ENG):c.816+6T>C rs759191907 0.00001
NM_001286715.1(AGTPBP1):c.2892del (p.Tyr964Terfs) rs780631499 0.00001
NM_001687.5(ATP5F1D):c.245C>T (p.Pro82Leu) rs867410737 0.00001
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter) rs267607261 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_003119.4(SPG7):c.2271del (p.Met757fs) rs1217391623 0.00001
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter) rs781984979 0.00001
NM_020999.4(NEUROG3):c.278G>T (p.Arg93Leu) rs121917838 0.00001
NM_052867.4(NALCN):c.2563C>T (p.Arg855Ter) rs376152742 0.00001
NM_152419.3(HGSNAT):c.493+809T>C rs1042066401 0.00001
NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg) rs752298579 0.00001
Multiple alleles
NC_000001.11:g.27491184_27584566del
NC_000004.12:g.106168703_106217941del
NC_000005.10:g.126508361_126769360del
NC_000005.10:g.88846693_89051376delinsG
NC_000009.12:g.137729445_137745564dup
NC_000012.12:g.43775405_43788500del
NC_000016.10:g.78152047_78188346del
NC_000017.11:g.46096853_46403941del
NC_000023.11:g.18419574_18504791del
NC_000023.11:g.64951692_65166933del
NG_012337.3(SDHD):g.11847_14024del
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) rs797045344
NM_000094.4(COL7A1):c.1A>G (p.Met1Val) rs1064797078
NM_000094.4(COL7A1):c.5532+1G>A rs767182886
NM_000138.5(FBN1):c.871G>T (p.Glu291Ter) rs1232880706
NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT rs869320698
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000214.3(JAG1):c.2113+1G>T rs1294950721
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter) rs555145190
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys) rs374526072
NM_000311.5(PRNP):c.227_228insTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGln) rs193922906
NM_000334.4(SCN4A):c.3424C>T (p.Arg1142Ter) rs912001256
NM_000478.6(ALPL):c.1364G>A (p.Gly455Asp) rs1289406215
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000944.5(PPP3CA):c.1308_1311dup (p.Ser438fs) rs1553920379
NM_000977.4(RPL13):c.477+1G>A rs1597675888
NM_001001433.3(STX16):c.393+557_792+364del
NM_001007228.2(SPOP):c.223G>A (p.Gly75Arg) rs2143273650
NM_001013838.3(CARMIL2):c.1784del (p.Lys595fs) rs774594582
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) rs398123538
NM_001032221.6(STXBP1):c.246+2_325+14del
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001042424.3(NSD2):c.1642dup (p.Arg548fs) rs1577484648
NM_001042492.3(NF1):c.4110+945A>G rs2067468999
NM_001080517.3(SETD5):c.2734C>T (p.Arg912Ter) rs2045177486
NM_001083962.2(TCF4):c.1486+1G>T rs2048816852
NM_001086521.2(NDUFAF8):c.1A>C (p.Met1Leu) rs1318084629
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.63-73_1087del
NM_001110792.2(MECP2):c.737_1311del (p.Ala246fs) rs1569548274
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His) rs121912678
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001128840.3(CACNA1D):c.2239T>C (p.Phe747Leu)
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln) rs1567871600
NM_001136157.2(OTUD5):c.1465G>A (p.Gly489Ser) rs2063620799
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001163435.3(TBCK):c.1860+1G>A rs1303851095
NM_001163435.3(TBCK):c.2060-6793_2235+427del
NM_001163435.3(TBCK):c.2060_2235+1del rs1560755661
NM_001163435.3(TBCK):c.659-1G>A rs1579391376
NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp) rs1475000361
NM_001165963.4(SCN1A):c.2616_3206delinsAAGTTGGCAAAA (p.Trp873_Ile1069delinsSerTrpGlnAsn)
NM_001190274.2(FBXO11):c.2685_2686del (p.Leu895_Ser896insTer) rs1572753822
NM_001197104.2(KMT2A):c.3521T>G (p.Leu1174Ter) rs1555038111
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter) rs751093906
NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter) rs1563452941
NM_001257180.2(SLC20A2):c.1723G>T (p.Glu575Ter) rs387906653
NM_001257180.2(SLC20A2):c.935-2A>G rs1586025869
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) rs543860009
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.539_542del (p.Val180fs) rs1057518345
NM_001287.6(CLCN7):c.952T>C (p.Phe318Leu) rs2038825509
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_001330701.2(AGTPBP1):c.2336-1G>T rs1554699491
NM_001347721.2(DYRK1A):c.201_204del (p.Asn68fs) rs1569355102
NM_001348323.3(TRIP12):c.1279del (p.Ser427fs) rs1553655558
NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs) rs1602253296
NM_001365276.2(TNXB):c.7943G>A (p.Trp2648Ter) rs968981994
NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter) rs387907144
NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln) rs1057519389
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001376571.1(MADD):c.4080del (p.Lys1361fs) rs2086196870
NM_001378183.1(PIEZO2):c.5257-1G>A rs1555630216
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001697.3(ATP5PO):c.87+3A>G rs1987287870
NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter) rs1565679039
NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val) rs1057523354
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001927.4(DES):c.1255_1271del (p.Pro419fs) rs1553603732
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) rs397514698
NM_002180.3(IGHMBP2):c.1235+894C>A rs1202430946
NM_002336.3(LRP6):c.3399del (p.Ala1134fs) rs2136885834
NM_002755.4(MAP2K1):c.388T>A (p.Tyr130Asn) rs397516793
NM_002816.5(PSMD12):c.1033G>T (p.Glu345Ter) rs1403781576
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) rs864321670
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
NM_003011.4(SET):c.663+5G>C rs1861628072
NM_003128.3(SPTBN1):c.803C>G (p.Thr268Ser) rs2103866356
NM_003334.4(UBA1):c.121A>G (p.Met41Val) rs1936307795
NM_003545.4(H4C5):c.295T>C (p.Tyr99His)
NM_003560.2(PLA2G6):c.-545_-46+1931delinsCGATCTC
NM_003620.4(PPM1D):c.1535del (p.Asn512fs) rs763475304
NM_003676.4(DEGS1):c.852_855del (p.Tyr283_Tyr284insTer) rs2102658561
NM_004006.3(DMD):c.9974+175T>A rs1602451773
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) rs1567876984
NM_004130.4(GYG1):c.487del (p.Asp163fs) rs727502871
NM_004239.4(TRIP11):c.2038G>T (p.Glu680Ter) rs1400419650
NM_004239.4(TRIP11):c.4557+1G>T rs1555386022
NM_004247.4(EFTUD2):c.1567del (p.Gln523fs) rs1555565774
NM_004380.3(CREBBP):c.3699-1469_3836+1579del
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_004937.3(CTNS):c.479del (p.Phe160fs) rs2076150607
NM_004937.3(CTNS):c.62-2864_225+2278del
NM_004944.4(DNASE1L3):c.290_291del (p.Thr97fs) rs751206379
NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile) rs587777893
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter) rs267606826
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
NM_005506.4(SCARB2):c.367dup (p.Gln123fs) rs1553948516
NM_005559.4(LAMA1):c.5407C>T (p.Gln1803Ter) rs1568019012
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter) rs774277300
NM_005631.5(SMO):c.1234C>T (p.Leu412Phe) rs879255280
NM_005677.4(COLQ):c.1212del (p.Cys405fs) rs771866680
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs) rs137854889
NM_005932.4(MIPEP):c.787-51_993-181del
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) rs1057519925
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter) rs1034395178
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter) rs1554121443
NM_006772.3(SYNGAP1):c.3416dup (p.Thr1140fs) rs1554122458
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg) rs151344517
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767
NM_013403.3(STRN4):c.282+78C>T rs1555735545
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) rs1554823375
NM_014727.3(KMT2B):c.118del (p.Ala40fs) rs1969024891
NM_014727.3(KMT2B):c.12_24dup (p.Ser9fs) rs1555727493
NM_014727.3(KMT2B):c.7614del (p.Thr2539fs) rs2146481256
NM_014738.6(TMEM94):c.2605dup (p.Met869fs) rs1163944538
NM_014738.6(TMEM94):c.765-1G>C rs1352010373
NM_014874.4(MFN2):c.600-31T>G
NM_015338.6(ASXL1):c.1283_1284del (p.Gln428fs) rs1569324457
NM_015338.6(ASXL1):c.1720-1G>A rs1254271466
NM_015378.4(VPS13D):c.11926del (p.Gln3976fs)
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg) rs1555575860
NM_015570.4(AUTS2):c.1534dup (p.Ala512fs) rs1789927813
NM_015932.6(POMP):c.334_335del (p.Ile112fs) rs1555257073
NM_015958.3(DPH5):c.329A>G (p.Asn110Ser)
NM_015958.3(DPH5):c.619C>T (p.Arg207Ter)
NM_016123.4(IRAK4):c.364C>T (p.Gln122Ter) rs1416395914
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016628.5(WAC):c.1537C>T (p.Arg513Ter) rs1564421528
NM_016955.5(SEPSECS):c.808dup rs776969714
NM_017617.5(NOTCH1):c.5078T>C (p.Phe1693Ser)
NM_017780.4(CHD7):c.2239-16T>A
NM_017780.4(CHD7):c.2239-20_2239-6del rs2150708627
NM_017934.7(PHIP):c.3656+1242A>T rs1582111930
NM_018263.6(ASXL2):c.2424del (p.Thr809fs) rs886041065
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_020320.5(RARS2):c.1612del (p.Thr538fs) rs781417096
NM_020699.4(GATAD2B):c.1075C>T (p.Gln359Ter) rs1557781252
NM_020699.4(GATAD2B):c.667_670del (p.Lys224fs) rs1570929072
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_020987.5(ANK3):c.8592G>T (p.Lys2864Asn) rs186051700
NM_021244.5(RRAGD):c.227C>T (p.Ser76Leu)
NM_022089.4(ATP13A2):c.1045_1046del (p.Ser349fs)
NM_022089.4(ATP13A2):c.1749+442_2251+512del
NM_024496.4(IRF2BPL):c.499C>T (p.Gln167Ter) rs1566786613
NM_024589.3(ROGDI):c.286C>T (p.Gln96Ter) rs387907145
NM_024589.3(ROGDI):c.506_507dup (p.Glu170fs) rs786205124
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg) rs1553770577
NM_025137.4(SPG11):c.2912_2914delinsGAT (p.Ile971_Gln972delinsArgTer) rs1555454508
NM_025137.4(SPG11):c.642del (p.Phe214fs) rs312262717
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met) rs1052954321
NM_030632.3(ASXL3):c.3039+1G>A rs1555743003
NM_030665.4(RAI1):c.2472dup (p.Leu825fs) rs1555565492
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
NM_032638.5(GATA2):c.839del (p.Pro280fs) rs1576748366
NM_033453.4(ITPA):c.263+583_295+1203del
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs) rs312262690
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_139058.3(ARX):c.196+129_1073+903del
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys) rs763301637
NM_152424.4(AMER1):c.565C>T (p.Gln189Ter) rs1602068260
NM_152906.5(TANGO2):c.57-1743_*10769del
NM_170606.3(KMT2C):c.8026C>T (p.Gln2676Ter) rs1587953116
NM_177972.3(TUB):c.1194_1195del (p.Arg398fs) rs727502810
NM_182961.4(SYNE1):c.1369del (p.Asp457fs) rs1554768245
NM_198880.3(QRICH1):c.1378C>T (p.Gln460Ter) rs1559931177
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NR_023317.1(RNU7-1):n.28C>T rs180837208
Single allele
m.15923A>G rs1556424691
m.4291T>C rs121434471
m.8344A>G rs118192098

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.