ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Eurofins Ntd Llc (ga) and "pathogenic" from any submitter

Minimum review status of the submission from Eurofins Ntd Llc (ga): Collection method of the submission from Eurofins Ntd Llc (ga):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 261
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_000392.5(ABCC2):c.1967+1G>A rs146405172 0.00078
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00053
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) rs142371860 0.00031
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00029
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_000550.3(TYRP1):c.1261+1G>A rs140365820 0.00021
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833 0.00019
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys) rs146802593 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000434.4(NEU1):c.649G>A (p.Val217Met) rs28940583 0.00017
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00017
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00013
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602 0.00011
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057 0.00010
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly) rs199501657 0.00010
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) rs144689354 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro) rs121909394 0.00005
NM_002427.4(MMP13):c.619T>G (p.Trp207Gly) rs140059558 0.00005
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879 0.00004
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00004
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287 0.00003
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774 0.00003
NM_000392.5(ABCC2):c.1177C>T (p.Arg393Trp) rs777902199 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr) rs886043807 0.00003
NM_080916.3(DGUOK):c.444-11C>G rs536746349 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg) rs757434857 0.00002
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr) rs765729815 0.00002
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084 0.00002
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp) rs754287486 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054 0.00002
NM_004482.4(GALNT3):c.892del (p.Tyr298fs) rs762936774 0.00002
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg) rs121918375 0.00002
NM_015072.5(TTLL5):c.1435C>T (p.Arg479Ter) rs753018563 0.00002
NM_015340.4(LARS2):c.556C>T (p.Gln186Ter) rs1163473923 0.00002
NM_022445.4(TPK1):c.185+1G>A rs747753388 0.00002
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913 0.00001
NM_000132.4(F8):c.1660A>G (p.Ser554Gly) rs137852419 0.00001
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000143.4(FH):c.1255T>C (p.Ser419Pro) rs200004220 0.00001
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811 0.00001
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro) rs368790885 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805 0.00001
NM_000277.3(PAH):c.1199+17G>A rs62508613 0.00001
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569 0.00001
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437 0.00001
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu) rs62646860 0.00001
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro) rs377311148 0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867 0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter) rs762813092 0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802 0.00001
NM_001159773.2(CANT1):c.836-9G>A rs538543007 0.00001
NM_001193315.2(VIPAS39):c.958C>T (p.Arg320Ter) rs747749610 0.00001
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439 0.00001
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter) rs750519430 0.00001
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter) rs886043924 0.00001
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) rs797044692 0.00001
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs) rs757603460 0.00001
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) rs794729289 0.00001
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301 0.00001
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365 0.00001
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142 0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro) rs753960624 0.00001
NM_001369268.1(ACAN):c.1156C>T (p.Arg386Ter) rs773948197 0.00001
NM_001384474.1(LOXHD1):c.4989G>A (p.Trp1663Ter) rs1223508098 0.00001
NM_001851.6(COL9A1):c.1411C>T (p.Arg471Ter) rs745532481 0.00001
NM_002693.3(POLG):c.2870C>T (p.Ala957Val) rs753160398 0.00001
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546 0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys) rs121908888 0.00001
NM_003119.4(SPG7):c.1A>G (p.Met1Val) rs794726906 0.00001
NM_003119.4(SPG7):c.376+1G>T rs746053679 0.00001
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His) rs760750012 0.00001
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys) rs772294884 0.00001
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp) rs281860303 0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_018122.5(DARS2):c.159_160del (p.Cys54fs) rs773706813 0.00001
NM_020779.4(WDR35):c.1468del (p.Gln490fs) rs886044119 0.00001
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter) rs372751467 0.00001
NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter) rs397515621 0.00001
NM_152617.4(RNF168):c.391C>T (p.Arg131Ter) rs201915239 0.00001
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NC_000011.10:g.77198597_77198604delinsCA rs111033259
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser) rs886042260
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000155.4(GALT):c.289_291del (p.Asn97del) rs398123179
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu) rs398123528
NM_000166.6(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro) rs886042073
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) rs137853263
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg) rs398123321
NM_000372.5(TYR):c.1392dup (p.Lys465Ter) rs1555100853
NM_000372.5(TYR):c.1424_1433del (p.Trp475fs) rs1402167763
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000478.6(ALPL):c.395C>T (p.Ala132Val) rs1558548925
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000489.6(ATRX):c.7366_7367del (p.Met2456fs) rs797044723
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.4(CFTR):c.3717+40A>G rs397508595
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_001003841.3(SLC6A19):c.1296_1297del (p.Met432fs) rs762942358
NM_001032221.6(STXBP1):c.87+1G>A rs796053350
NM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs) rs750744696
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp) rs1553255362
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001142800.2(EYS):c.9400del (p.Val3134fs) rs886042614
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys) rs121918788
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs) rs794727544
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.64680dup (p.Gly21561fs) rs794729330
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) rs869038795
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter) rs886042331
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) rs886044536
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) rs797044787
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg) rs886044289
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp) rs757259413
NM_001371986.1(UNC80):c.8698del (p.Trp2900fs) rs886043644
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001379270.1(CNGA1):c.1617C>G (p.Tyr539Ter) rs1560616550
NM_001844.5(COL2A1):c.1340G>A (p.Gly447Asp) rs886043561
NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp) rs1555166528
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001849.4(COL6A2):c.1770+1del rs886044215
NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp) rs397515333
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) rs1554337974
NM_002074.5(GNB1):c.346G>A (p.Gly116Ser) rs1231842600
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly) rs201732356
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.213T>G (p.Phe71Leu) rs1555267558
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp) rs863223792
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004525.3(LRP2):c.13139del (p.Pro4380fs) rs80338754
NM_004625.4(WNT7A):c.610G>A (p.Gly204Ser) rs387907231
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) rs794727637
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.937C>T (p.His313Tyr) rs886044563
NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg) rs1345986424
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln) rs387906937
NM_012210.4(TRIM32):c.1108del (p.Met370fs) rs759376012
NM_015072.5(TTLL5):c.2209C>T (p.Arg737Ter) rs1555344661
NM_015107.3(PHF8):c.2210C>G (p.Ser737Ter) rs797044665
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_016955.5(SEPSECS):c.808dup rs776969714
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018451.5(CPAP):c.3538_3539delinsTG (p.Glu1180Ter) rs1566276461
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter) rs868044680
NM_030962.4(SBF2):c.619+1G>A rs1565150234
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val) rs869320701
NM_130837.3(OPA1):c.1364C>T (p.Pro455Leu) rs794727069
NM_130837.3(OPA1):c.610+364G>A rs983041061
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del) rs863225070
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) rs924232072
NM_152443.3(RDH12):c.63_66del (p.Ile22fs) rs794729650
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.3G>T (p.Met1Ile) rs794728598
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly) rs58327533
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del) rs58978449
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_173477.5(USH1G):c.1311del (p.Lys438fs) rs886043626
NM_201548.5(CERKL):c.239-1G>A rs1559100465
Single allele

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