ClinVar Miner

Variants with conflicting interpretations "uncertain significance" 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: 342
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_001077415.3(CRELD1):c.320G>A (p.Arg107His) rs28941780 0.00139
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354 0.00124
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_000372.5(TYR):c.665T>C (p.Ile222Thr) rs34878847 0.00096
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454 0.00089
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534 0.00072
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093 0.00057
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp) rs138943074 0.00038
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro) rs146195955 0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020 0.00031
NM_000104.4(CYP1B1):c.155C>T (p.Pro52Leu) rs201824781 0.00030
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_015047.3(EMC1):c.2712dup (p.His905fs) rs781137936 0.00026
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter) rs201419367 0.00024
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978 0.00021
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys) rs200067423 0.00019
NM_032119.4(ADGRV1):c.18782T>C (p.Leu6261Ser) rs557331348 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083 0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207 0.00015
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys) rs138587317 0.00015
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg) rs780411290 0.00011
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_020549.5(CHAT):c.406G>A (p.Val136Met) rs201479289 0.00011
NM_078470.6(COX15):c.396-3C>G rs200910834 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619 0.00010
NM_144991.3(TSPEAR):c.1469T>A (p.Leu490Gln) rs781994662 0.00010
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697 0.00010
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln) rs139484231 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala) rs28936704 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_001353108.3(CEP63):c.31C>T (p.Arg11Ter) rs763001827 0.00007
NM_002693.3(POLG):c.2636A>G (p.Gln879Arg) rs368587966 0.00007
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr) rs368500877 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu) rs190612616 0.00006
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys) rs374156343 0.00006
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile) rs193922795 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His) rs368435864 0.00006
NM_006005.3(WFS1):c.977C>T (p.Ala326Val) rs369795224 0.00006
NM_007059.4(KPTN):c.394+1G>A rs373139784 0.00006
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro) rs121912619 0.00006
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) rs137852990 0.00006
NM_144991.3(TSPEAR):c.1754G>T (p.Ser585Ile) rs782716325 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp) rs186044004 0.00004
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513 0.00004
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784 0.00004
NM_000283.4(PDE6B):c.1685G>A (p.Gly562Asp) rs774268095 0.00004
NM_000392.5(ABCC2):c.1586G>A (p.Arg529Gln) rs781337846 0.00004
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser) rs766206507 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_001145860.2(POP1):c.163C>T (p.Arg55Ter) rs370453487 0.00004
NM_001252024.2(TRPM1):c.2848C>T (p.Arg950Trp) rs727504182 0.00004
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) rs199655686 0.00004
NM_001298.3(CNGA3):c.1687C>T (p.Arg563Cys) rs150153987 0.00004
NM_001349206.2(LPIN1):c.2282G>A (p.Arg761His) rs398124543 0.00004
NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala) rs387907058 0.00004
NM_015338.6(ASXL1):c.1249C>T (p.Arg417Ter) rs375215583 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys) rs398124579 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met) rs201238640 0.00004
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000326.5(RLBP1):c.25C>T (p.Arg9Cys) rs775252439 0.00003
NM_000478.6(ALPL):c.673T>C (p.Tyr225His) rs759125473 0.00003
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly) rs193922511 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000540.3(RYR1):c.5120G>A (p.Arg1707His) rs371566475 0.00003
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) rs863224072 0.00003
NM_004082.5(DCTN1):c.414+1G>A rs576198476 0.00003
NM_004183.4(BEST1):c.418C>G (p.Leu140Val) rs267606678 0.00003
NM_006269.2(RP1):c.515T>G (p.Leu172Arg) rs180729424 0.00003
NM_024120.5(NDUFAF5):c.775C>T (p.Gln259Ter) rs755097467 0.00003
NM_033100.4(CDHR1):c.1A>G (p.Met1Val) rs794726954 0.00003
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly) rs781668118 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp) rs114837786 0.00003
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) rs373150395 0.00002
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402 0.00002
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln) rs767729255 0.00002
NM_000521.4(HEXB):c.1614-16_1615dup rs1554037309 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582 0.00002
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879 0.00002
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) rs201067821 0.00002
NM_020451.3(SELENON):c.883G>A (p.Glu295Lys) rs978886878 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_032119.4(ADGRV1):c.17933A>G (p.His5978Arg) rs756460900 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro) rs398123090 0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512 0.00001
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr) rs398123164 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000275.3(OCA2):c.1045-9T>G rs755604671 0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632 0.00001
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420 0.00001
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437 0.00001
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368 0.00001
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646 0.00001
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_000391.4(TPP1):c.887-10A>G rs755445790 0.00001
NM_000392.5(ABCC2):c.2077G>A (p.Gly693Arg) rs765570396 0.00001
NM_000426.4(LAMA2):c.1580G>A (p.Cys527Tyr) rs121913574 0.00001
NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg) rs121913573 0.00001
NM_000434.4(NEU1):c.615G>A (p.Gln205=) rs781137251 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_000478.6(ALPL):c.920C>T (p.Pro307Leu) rs768555495 0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly) rs397508436 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met) rs398123471 0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) rs137852873 0.00001
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys) rs199634446 0.00001
NM_001048174.2(MUTYH):c.493-5A>G rs758377868 0.00001
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001142800.2(EYS):c.5644+5G>A rs794727412 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001267550.2(TTN):c.10303+2T>C rs371596417 0.00001
NM_001267550.2(TTN):c.105805del (p.Thr35269fs) rs752787097 0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001267550.2(TTN):c.44816-1G>A rs749705939 0.00001
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350 0.00001
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009 0.00001
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=) rs794727533 0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003673.4(TCAP):c.334C>T (p.Gln112Ter) rs794729175 0.00001
NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His) rs756220860 0.00001
NM_003865.3(HESX1):c.509C>T (p.Ser170Leu) rs28936703 0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850 0.00001
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg) rs777367269 0.00001
NM_016180.5(SLC45A2):c.1032G>T (p.Gln344His) rs794727645 0.00001
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys) rs371352836 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) rs28928902 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala) rs774759345 0.00001
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471 0.00001
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_213599.3(ANO5):c.1391C>A (p.Ala464Asp) rs529961953 0.00001
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del) rs769280599
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000071.3(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) rs515726173
NM_000143.4(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.4(FH):c.1520T>C (p.Leu507Pro) rs1425094515
NM_000143.4(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.4(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg) rs782598150
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg) rs398123244
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) rs758687942
NM_000276.4(OCRL):c.1498C>G (p.Arg500Gly) rs398123287
NM_000277.3(PAH):c.1065+3A>G rs62508689
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn) rs150639487
NM_000291.4(PGK1):c.639C>T (p.Gly213=) rs797044505
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys) rs104894624
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys) rs886043595
NM_000346.4(SOX9):c.507C>G (p.His169Gln) rs2229989
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys) rs777078540
NM_000350.3(ABCA4):c.1510A>C (p.Asn504His) rs1243753206
NM_000350.3(ABCA4):c.2902G>A (p.Gly968Arg) rs794727220
NM_000350.3(ABCA4):c.3262C>T (p.Pro1088Ser) rs1553190579
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys) rs886043680
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000463.3(UGT1A1):c.1060T>A (p.Trp354Arg) rs1559414817
NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser) rs755218546
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu) rs373885282
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His) rs150683293
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000531.6(OTC):c.572T>G (p.Leu191Arg) rs72556297
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) rs1553781360
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp) rs753208767
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.3(RYR1):c.14555A>G (p.Tyr4852Cys) rs886042826
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys) rs886044196
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000883.4(IMPDH1):c.66_72dup (p.Gln25fs) rs767123748
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_001039348.3(EFEMP1):c.418C>T (p.Arg140Trp) rs756065296
NM_001080414.4(CCDC88C):c.5695del (p.Leu1899fs) rs1396400378
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001184.4(ATR):c.1358_1359del (p.His453fs) rs886044646
NM_001267550.2(TTN):c.105428del (p.Gly35143fs) rs886042825
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001298.3(CNGA3):c.1597G>C (p.Asp533His) rs775332304
NM_001298.3(CNGA3):c.1712T>C (p.Ile571Thr) rs750456621
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001349338.3(FOXP1):c.1652+5G>A rs794727216
NM_001368894.2(PAX6):c.192C>A (p.Asn64Lys) rs727504064
NM_001369268.1(ACAN):c.7512T>G (p.Tyr2504Ter) rs1567195445
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe) rs794727777
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val) rs797044730
NM_002427.4(MMP13):c.287_293del (p.Cys96fs) rs886042854
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del) rs267607264
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly) rs727503996
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003742.4(ABCB11):c.1146_1166del (p.Phe383_Ala389del) rs1553468235
NM_003742.4(ABCB11):c.2495G>A (p.Arg832His) rs376255350
NM_004006.3(DMD):c.93+5590T>A rs1557211730
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys) rs727503824
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_005120.3(MED12):c.3844G>A (p.Val1282Met) rs398124197
NM_005422.4(TECTA):c.6062G>A (p.Arg2021His) rs121909062
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu) rs794727507
NM_006516.4(SLC2A1):c.458G>A (p.Arg153His) rs794727642
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His) rs727504155
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_006565.4(CTCF):c.1130G>A (p.Arg377His) rs968244943
NM_006899.5(IDH3B):c.34C>T (p.Arg12Ter) rs745313320
NM_014231.5(VAMP1):c.65del (p.Pro22fs) rs886042861
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_015922.3(NSDHL):c.727G>A (p.Val243Met) rs587784224
NM_016247.4(IMPG2):c.3423-7_3423-4del rs534452999
NM_017668.3(NDE1):c.1A>G (p.Met1Val) rs794727491
NM_017882.3(CLN6):c.721A>G (p.Met241Val) rs753994750
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_024009.3(GJB3):c.196_198del (p.Asp66del) rs786200895
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg) rs759875552
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu) rs267607629
NM_170707.4(LMNA):c.694G>A (p.Gly232Arg) rs267607609
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys) rs397517912
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) rs794727813
NM_178170.3(NEK8):c.133C>T (p.Arg45Trp) rs1567759130
NM_203475.3(PORCN):c.1093C>T (p.Arg365Trp) rs398124616
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg) rs886043096
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro) rs398124620
Single allele

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