ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" and "likely benign"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
ClinVar version:

Total variants with conflicting interpretations: 291

HGVS dbSNP
GRCh37/hg19 2q21.1(chr2:131477947-131956516)x1
NC_012920.1:m.15511T>C rs527236188
NM_000017.3(ACADS):c.511C>T (p.Arg171Trp) rs1800556
NM_000018.3(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000027.3(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000033.3(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000052.6(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000053.3(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340
NM_000059.3(BRCA2):c.8084C>T (p.Ser2695Leu) rs80359048
NM_000083.2(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000089.3(COL1A2):c.2957C>T (p.Pro986Leu) rs768171831
NM_000138.4(FBN1):c.59A>G (p.Tyr20Cys) rs201309310
NM_000143.3(FH):c.1127A>C (p.Gln376Pro) rs200796606
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000152.3(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.3(GAA):c.761C>T (p.Ser254Leu) rs577915581
NM_000168.5(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_000168.5(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000209.3(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) rs3212723
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322
NM_000218.2(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_000218.2(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632
NM_000218.2(KCNQ1):c.820A>G (p.Ile274Val) rs199472728
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000245.3(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_000245.3(MET):c.2975C>T (p.Thr992Ile) rs56391007
NM_000249.3(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) rs371061770
NM_000257.3(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000264.4(PTCH1):c.3947A>G (p.Tyr1316Cys) rs147067171
NM_000274.3(OAT):c.1311G>T (p.Leu437Phe) rs1800456
NM_000282.3(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000283.3(PDE6B):c.2326G>A (p.Asp776Asn) rs141563823
NM_000287.3(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000304.3(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000350.2(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.2(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.2(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.2(ABCA4):c.2791G>A (p.Val931Met) rs58331765
NM_000350.2(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.2(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.2(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.2(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.2(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146
NM_000350.2(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.2(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.2(ABCA4):c.71G>A (p.Arg24His) rs62645958
NM_000369.2(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000384.2(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000391.3(TPP1):c.381-10dupT rs146315473
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) rs80265967
NM_000455.4(STK11):c.1088C>T (p.Thr363Ile) rs587778695
NM_000455.4(STK11):c.842C>T (p.Pro281Leu) rs121913322
NM_000492.3(CFTR):c.1210-11T>G rs73715573
NM_000492.3(CFTR):c.1399C>T (p.Leu467Phe) rs1800089
NM_000505.3(F12):c.1027G>C (p.Ala343Pro) rs183643295
NM_000505.3(F12):c.1681-1G>A rs199988476
NM_000518.4(HBB):c.316-125A>G rs63751175
NM_000527.4(LDLR):c.-120C>T rs875989886
NM_000527.4(LDLR):c.-97G>A rs944580031
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.1060+10G>A rs12710260
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.4(LDLR):c.1153C>G (p.Leu385Val) rs879254808
NM_000527.4(LDLR):c.1167G>A (p.Thr389=) rs139066906
NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) rs11669576
NM_000527.4(LDLR):c.1194C>T (p.Ile398=) rs13306498
NM_000527.4(LDLR):c.1221C>T (p.His407=) rs778424518
NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.4(LDLR):c.1288G>C (p.Val430Leu) rs879254853
NM_000527.4(LDLR):c.1301C>A (p.Thr434Lys) rs745343524
NM_000527.4(LDLR):c.1301C>T (p.Thr434Met) rs745343524
NM_000527.4(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.4(LDLR):c.1503G>A (p.Ala501=) rs368889457
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1801G>C (p.Asp601His) rs753707206
NM_000527.4(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1846-10G>T rs368243304
NM_000527.4(LDLR):c.1876G>A (p.Glu626Lys) rs139791325
NM_000527.4(LDLR):c.1928C>T (p.Ala643Val) rs879255075
NM_000527.4(LDLR):c.1965C>G (p.Phe655Leu) rs879255090
NM_000527.4(LDLR):c.1975A>C (p.Thr659Pro) rs773693079
NM_000527.4(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.4(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.4(LDLR):c.233G>A (p.Arg78His) rs146675823
NM_000527.4(LDLR):c.2343G>T (p.Glu781Asp) rs761683856
NM_000527.4(LDLR):c.2441G>A (p.Arg814Gln) rs5928
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.2547+5G>C rs879255226
NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.313+2T>C rs793888517
NM_000527.4(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.4(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.4(LDLR):c.598T>A (p.Phe200Ile) rs879254585
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.4(LDLR):c.82G>A (p.Glu28Lys) rs551747280
NM_000527.4(LDLR):c.895G>T (p.Ala299Ser) rs879254711
NM_000527.4(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.4(LDLR):c.941-4G>A rs116405216
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.4(LDLR):c.979C>T (p.His327Tyr) rs747507019
NM_000527.4(LDLR):c.986G>A (p.Cys329Tyr) rs761954844
NM_000532.4(PCCB):c.872G>A (p.Cys291Tyr) rs77820367
NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986
NM_000540.2(RYR1):c.2366G>A (p.Arg789Gln) rs200069592
NM_000540.2(RYR1):c.2654G>A (p.Arg885His) rs370634440
NM_000540.2(RYR1):c.4481T>C (p.Val1494Ala) rs767928113
NM_000540.2(RYR1):c.5634_5636delGGA (p.Glu1878del) rs371047178
NM_000546.5(TP53):c.467G>A (p.Arg156His) rs371524413
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000546.5(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000719.6(CACNA1C):c.6307G>T (p.Ala2103Ser) rs193922616
NM_000890.3(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292
NM_001033855.2(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896
NM_001035.2(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001040113.1(MYH11):c.5294G>A (p.Arg1765Gln) rs142546324
NM_001042432.1(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_001042492.2(NF1):c.107C>G (p.Thr36Ser) rs199966218
NM_001065.3(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001069.2(TUBB2A):c.743C>T (p.Ala248Val) rs2808001
NM_001080116.1(LDB3):c.321+1523C>T rs45487699
NM_001080522.2(CC2D2A):c.685_687delGAA (p.Glu229del) rs386833764
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001128835.2(TRAPPC2):c.12G>A (p.Trp4Ter) rs746032983
NM_001130438.2(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650
NM_001134363.2(RBM20):c.3545G>A (p.Arg1182His) rs563762318
NM_001142800.1(EYS):c.977G>A (p.Ser326Asn) rs112822256
NM_001148.4(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141
NM_001165963.1(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010
NM_001256850.1(TTN):c.3295G>A (p.Val1099Met) rs368282893
NM_001257965.1(CRB1):c.291_299delAATTGATGG (p.Ile98_Gly100del) rs398124615
NM_001267550.2(TTN):c.50858-3C>T rs587782987
NM_001271.3(CHD2):c.3734delA (p.Lys1245Asnfs) rs752940775
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
NM_001376.4(DYNC1H1):c.7918G>A (p.Glu2640Lys) rs797045535
NM_001846.3(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_001943.4(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.4(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_002222.5(ITPR1):c.3822C>T (p.Asn1274=) rs182840163
NM_002310.5(LIFR):c.1937C>A (p.Thr646Asn) rs79040751
NM_002386.3(MC1R):c.247T>C (p.Ser83Pro) rs34474212
NM_002386.3(MC1R):c.252C>A (p.Asp84Glu) rs1805006
NM_002386.3(MC1R):c.515G>T (p.Ser172Ile) rs376670171
NM_002386.3(MC1R):c.880G>C (p.Asp294His) rs1805009
NM_002471.3(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_003035.2(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_003052.4(SLC34A1):c.398C>T (p.Ala133Val) rs148976897
NM_003126.3(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522
NM_003159.2(CDKL5):c.2854C>T (p.Arg952Ter) rs202153551
NM_003242.5(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003476.4(CSRP3):c.336G>A (p.Ala112=) rs13451
NM_003482.3(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483
NM_003482.3(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003494.3(DYSF):c.1966A>G (p.Lys656Glu) rs139754493
NM_003494.3(DYSF):c.383G>A (p.Gly128Glu) rs34997054
NM_003494.3(DYSF):c.4199C>G (p.Pro1400Arg) rs138268837
NM_003494.3(DYSF):c.5026G>T (p.Ala1676Ser) rs141137410
NM_003494.3(DYSF):c.5999G>A (p.Arg2000Gln) rs115407852
NM_004004.5(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004006.2(DMD):c.2117C>A (p.Pro706Gln) rs781015830
NM_004006.2(DMD):c.5485C>G (p.Gln1829Glu) rs754765424
NM_004252.4(SLC9A3R1):c.673G>A (p.Glu225Lys) rs119486097
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004369.3(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004403.3(GSDME):c.1277_1279delATG (p.Asp426del) rs374353052
NM_004415.2(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004431.4(EPHA2):c.2162G>A (p.Arg721Gln) rs116506614
NM_004586.2(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628
NM_004646.3(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857
NM_005477.2(HCN4):c.2275G>A (p.Val759Ile) rs62641689
NM_005634.2(SOX3):c.157G>C (p.Val53Leu) rs200361128
NM_006214.3(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis) rs566116760
NM_006214.3(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_006267.4(RANBP2):c.7499C>T (p.Thr2500Ile) rs140280672
NM_006269.1(RP1):c.616-6T>C rs186571865
NM_006432.4(NPC2):c.88G>A (p.Val30Met) rs151220873
NM_006579.2(EBP):c.511C>T (p.Arg171Cys) rs141925556
NM_006612.5(KIF1C):c.2734C>T (p.Arg912Trp) rs202232792
NM_007272.2(CTRC):c.760C>T (p.Arg254Trp) rs121909293
NM_007294.3(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.3(BRCA1):c.301+1G>A rs587782173
NM_007294.3(BRCA1):c.301+1G>C rs587782173
NM_007294.3(BRCA1):c.3179A>C (p.Glu1060Ala) rs80357184
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_012210.3(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835
NM_012224.2(NEK1):c.2151T>G (p.Asn717Lys) rs34324114
NM_012224.2(NEK1):c.782G>A (p.Arg261His) rs200161705
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883
NM_013275.5(ANKRD11):c.2684G>A (p.Arg895Gln) rs199800166
NM_014467.2(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060
NM_014625.3(NPHS2):c.-51G>T rs12406197
NM_015120.4(ALMS1):c.9789G>A (p.Gln3263=) rs757139660
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_016335.4(PRODH):c.1397C>T (p.Thr466Met) rs2870984
NM_016579.3(CD320):c.262_264delGAG (p.Glu88del) rs150384171
NM_017534.5(MYH2):c.4774C>A (p.Leu1592Met) rs138393827
NM_017651.4(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_017745.5(BCOR):c.2035G>A (p.Val679Ile) rs144722432
NM_017849.3(TMEM127):c.208G>A (p.Asp70Asn) rs121908819
NM_017849.3(TMEM127):c.217G>C (p.Gly73Arg) rs121908820
NM_017849.3(TMEM127):c.268G>A (p.Val90Met) rs121908823
NM_018055.4(NODAL):c.778G>A (p.Gly260Arg) rs121909283
NM_018127.6(ELAC2):c.2342G>A (p.Arg781His) rs119484086
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) rs145475623
NM_018941.3(CLN8):c.507C>T (p.Ser169=) rs386834131
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_019098.4(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413
NM_020630.4(RET):c.1996A>G (p.Lys666Glu) rs143795581
NM_020630.4(RET):c.1998G>T (p.Lys666Asn) rs146646971
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538
NM_021942.5(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563
NM_022041.3(GAN):c.1684C>G (p.Pro562Ala) rs79901179
NM_022455.4(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_024422.3(DSC2):c.2368_2370delGGA (p.Gly790del) rs377272752
NM_024675.3(PALB2):c.400G>A (p.Asp134Asn) rs139555085
NM_025216.2(WNT10A):c.1087A>C (p.Asn363His) rs34972707
NM_025216.2(WNT10A):c.511C>T (p.Arg171Cys) rs116998555
NM_030973.3(MED25):c.1004C>T (p.Ala335Val) rs145770066
NM_031220.3(PITPNM3):c.1878G>C (p.Gln626His) rs76024428
NM_032119.3(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306
NM_032119.3(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405
NM_032119.3(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032578.3(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_032578.3(MYPN):c.59A>G (p.Tyr20Cys) rs140148105
NM_032682.5(FOXP1):c.44C>T (p.Ala15Val) rs532329866
NM_033028.4(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_033071.3(SYNE1):c.19479+3G>A rs150304757
NM_053025.3(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_133378.4(TTN):c.39544G>A (p.Val13182Ile) rs72677232
NM_133378.4(TTN):c.96872G>A (p.Arg32291Gln) rs68080670
NM_138691.2(TMC1):c.1763+3A>G rs370898981
NM_138694.3(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_138694.3(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323
NM_152384.2(BBS5):c.551A>G (p.Asn184Ser) rs137853921
NM_152419.2(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_153033.4(KCTD7):c.456G>A (p.Val152=) rs796052686
NM_170707.3(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_174936.3(PCSK9):c.1251C>A (p.His417Gln) rs143275858
NM_174936.3(PCSK9):c.1405C>T (p.Arg469Trp) rs141502002
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_201590.2(CACNB2):c.1430G>A (p.Arg477His) rs184280124
NM_206933.2(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.2(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.2(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.2(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_207034.2(EDN3):c.293C>A (p.Thr98Lys) rs745795470
NM_207034.2(EDN3):c.565dup (p.Thr189Asnfs) rs11570344
NM_207122.1(EXT2):c.11C>T (p.Ser4Leu) rs527624522
Single allele
UGT1A1*6 rs4148323

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