ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "likely pathogenic" from any submitter

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 283
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HGVS dbSNP
NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) rs754359356
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser) rs574376340
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val) rs202210810
NM_000036.2(AMPD1):c.1261C>T (p.Arg421Trp) rs35859650
NM_000036.2(AMPD1):c.959A>T (p.Lys320Ile) rs34526199
NM_000048.4(ASL):c.332G>A (p.Arg111Gln) rs561367199
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.3(CAPN3):c.1745+4_1745+7del rs794727082
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964
NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073
NM_000080.4(CHRNE):c.1480_*48delinsC (p.Ter494LeuextTer?) rs1555546038
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000098.3(CPT2):c.371G>C (p.Arg124Pro) rs1131691925
NM_000109.4(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000143.3(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.3(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000155.4(GALT):c.893T>C (p.Met298Thr) rs886042064
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu) rs794726972
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000169.2(GLA):c.619T>C (p.Tyr207His) rs372416832
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) rs794727618
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000252.2(MTM1):c.1291G>A (p.Asp431Asn) rs886044782
NM_000252.3(MTM1):c.1537_1564delinsAACTGGA (p.Phe513_Leu522delinsAsnTrpIle) rs398123271
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796
NM_000256.3(MYBPC3):c.2737+5G>A rs398123280
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp) rs763073072
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000284.4(PDHA1):c.311T>C (p.Leu104Pro) rs794727621
NM_000291.4(PGK1):c.639C>T (p.Gly213=) rs797044505
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser) rs139002629
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys) rs104894624
NM_000314.7(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000368.4(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000382.3(ALDH3A2):c.1267C>T (p.Arg423Cys) rs370654268
NM_000391.4(TPP1):c.887-18A>G rs935526225
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000396.4(CTSK):c.541T>C (p.Tyr181His) rs868112062
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn) rs191468413
NM_000440.3(PDE6A):c.1620G>A (p.Glu540=) rs727504072
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys) rs886043680
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.3200C>T (p.Ala1067Val) rs1800114
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.581G>T (p.Gly194Val) rs397508763
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.4(CFTR):c.3297C>A rs747754623
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445
NM_000492.4(CFTR):c.489+3A>G rs377729736
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000520.6(HEXA):c.536A>G (p.His179Arg) rs747372270
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.2(RYR1):c.14524G>A rs193922879
NM_000540.2(RYR1):c.14672G>A (p.Gly4891Asp) rs398123470
NM_000540.2(RYR1):c.5120G>A (p.Arg1707His) rs371566475
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_001035.3(RYR2):c.6829T>C (p.Cys2277Arg) rs794727676
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938
NM_001110792.2(MECP2):c.1200A>C (p.Pro400=) rs797044732
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384
NM_001127644.2(GABRA1):c.851T>C (p.Val284Ala) rs794727962
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu575_Leu576insVal) rs1446214240
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu) rs773837400
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272
NM_001164277.1(SLC37A4):c.497G>A (p.Arg166His) rs186476316
NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly) rs151023718
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro) rs398123592
NM_001165963.4(SCN1A):c.4793A>T (p.Tyr1598Phe) rs377325221
NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser) rs794727415
NM_001165963.4(SCN1A):c.791T>C (p.Ile264Thr) rs745664511
NM_001171.5(ABCC6):c.496C>T (p.Arg166Cys) rs201766106
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105
NM_001256850.1(TTN):c.30895+1G>A rs794727043
NM_001267550.2(TTN):c.10303+2T>C rs371596417
NM_001267550.2(TTN):c.105485G>A (p.Trp35162Ter) rs886042795
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr) rs369108107
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) rs559590585
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494
NM_001267550.2(TTN):c.7057+2dup rs765019023
NM_001267550.2(TTN):c.70819G>A (p.Ala23607Thr) rs786205539
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001298.3(CNGA3):c.1687C>T (p.Arg563Cys) rs150153987
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro) rs146195955
NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter) rs199546979
NM_001330260.2(SCN8A):c.615-230T>C rs1057518487
NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro) rs141686175
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
NM_001360.2(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709
NM_001377.3(DYNC2H1):c.12581C>T (p.Ser4194Phe) rs886042136
NM_001701.4(BAAT):c.761C>T (p.Thr254Met) rs768526453
NM_001844.5(COL2A1):c.1266+5G>A rs1064794958
NM_001848.2(COL6A1):c.814G>A (p.Gly272Ser) rs398123640
NM_001849.3(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501
NM_001849.3(COL6A2):c.2593_2608dup (p.Asp870fs) rs1555877258
NM_001849.3(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn) rs398123679
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002437.5(MPV17):c.275A>C (p.Asp92Ala) rs1057524366
NM_002437.5(MPV17):c.376-9T>G rs368900406
NM_002474.3(MYH11):c.3125G>A (p.Arg1042Gln) rs771297865
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp) rs373118250
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) rs199759055
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) rs202037973
NM_002693.2(POLG):c.2481-7C>T rs2307448
NM_002693.2(POLG):c.2857C>T (p.Arg953Cys) rs11546842
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.3287G>A (p.Arg1096His) rs368435864
NM_002693.2(POLG):c.855G>C (p.Gln285His) rs141367015
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819
NM_003361.3(UMOD):c.317G>T (p.Cys106Phe) rs398123697
NM_003467.2(CXCR4):c.1003G>A (p.Gly335Ser) rs147214773
NM_003630.3(PEX3):c.389G>A (p.Arg130Gln) rs758701470
NM_003640.5(ELP1):c.1461-2A>G rs866046915
NM_003673.3(TCAP):c.209G>A (p.Arg70Gln) rs552865793
NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His) rs756220860
NM_004006.2(DMD):c.2117C>A (p.Pro706Gln) rs781015830
NM_004369.3(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004463.3(FGD1):c.1564C>T (p.Arg522Cys) rs398124159
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842
NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp) rs754730601
NM_005120.3(MED12):c.3844G>A (p.Val1282Met) rs398124197
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu) rs121918342
NM_006005.3(WFS1):c.2195G>A (p.Arg732His) rs149013740
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) rs56393026
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg) rs777367269
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_006859.4(LIAS):c.983T>A (p.Phe328Tyr) rs1064793165
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916
NM_012452.2(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876
NM_012470.3(TNPO3):c.2542del (p.Tyr848fs) rs773574448
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143
NM_014384.2(ACAD8):c.400G>T (p.Asp134Tyr) rs367857040
NM_014874.3(MFN2):c.392A>G (p.Asn131Ser) rs776404901
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_015560.2(OPA1):c.1301T>C (p.Leu434Pro) rs1553877946
NM_015560.2(OPA1):c.1712G>A (p.Arg571His) rs140606054
NM_015922.3(NSDHL):c.727G>A (p.Val243Met) rs587784224
NM_017890.4(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp) rs767713084
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) rs145475623
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018848.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398
NM_019109.4(ALG1):c.149A>G (p.Gln50Arg) rs794726944
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009
NM_020745.4(AARS2):c.2728_2755del (p.Thr910fs) rs780343109
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778
NM_022154.5(SLC39A8):c.610G>T rs779241085
NM_022455.4(NSD1):c.6173A>G (p.Tyr2058Cys) rs398124380
NM_024022.3(TMPRSS3):c.326G>A (p.Arg109Gln) rs139484231
NM_024079.5(ALG8):c.1134G>T (p.Trp378Cys) rs867450807
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428
NM_032409.3(PINK1):c.1015G>A (p.Ala339Thr) rs55831733
NM_032415.6(CARD11):c.224G>A (p.Arg75Gln) rs1064795280
NM_032856.5(WDR73):c.1132del (p.Arg378fs) rs747109506
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_052873.3(IFT43):c.310+2T>C rs141114765
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978
NM_138691.2(TMC1):c.1333C>T (p.Arg445Cys) rs372710475
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val) rs777976050
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816
NM_139058.3(ARX):c.447GGCCGC[3] (p.Ala154_Ala155dup) rs398124512
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys) rs759088490
NM_152778.3(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024
NM_153240.5(NPHP3):c.974T>C (p.Leu325Pro) rs1560014265
NM_153240.5(NPHP3):c.985T>C (p.Cys329Arg) rs766285779
NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys) rs148726767
NM_170707.4(LMNA):c.1114G>A (p.Glu372Lys) rs1553265733
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr) rs60446065
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys) rs58436778
NM_170707.4(LMNA):c.1466T>G (p.Leu489Arg) rs1558132909
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu) rs267607629
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys) rs397517912
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134
NM_172107.4(KCNQ2):c.1887+5G>A rs777916008
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) rs794727741
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143
NM_176787.5(PIGN):c.562C>T (p.His188Tyr) rs773629540
NM_194248.3(OTOF):c.3277G>A (p.Glu1093Lys) rs1064795233
NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter) rs757532106
NM_198903.2(GABRG2):c.1120G>A (p.Ala374Thr) rs398123523
NM_206933.3(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599
NM_207346.3(TSEN54):c.1415G>A (p.Arg472Gln) rs151332020
NM_213599.2(ANO5):c.1538C>T (p.Thr513Ile) rs281865467
NM_213599.2(ANO5):c.155A>G rs143777403
NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile) rs375014127
NM_213599.2(ANO5):c.169C>T (p.Arg57Trp) rs1323349209
Single allele

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