ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Eurofins Ntd Llc (ga) and "uncertain significance" 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: 110
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00489
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00279
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00219
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00184
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00151
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00128
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00093
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00048
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00040
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00030
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00027
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00011
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter) rs200737038 0.00007
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_206933.4(USH2A):c.12295-3T>A rs111033518 0.00005
NM_000540.3(RYR1):c.6274+1G>A rs1226228092 0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892 0.00004
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_000157.4(GBA1):c.1060G>C (p.Asp354His) rs398123526 0.00002
NM_001267550.2(TTN):c.107377+1G>A rs112188483 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu) rs760626912 0.00001
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp) rs111033666 0.00001
NM_000169.3(GLA):c.870G>C (p.Met290Ile) rs869312438 0.00001
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn) rs398123234 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000443.4(ABCB4):c.1006-1G>T rs772823352 0.00001
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_000451.4(SHOX):c.440G>A (p.Arg147His) rs886043634 0.00001
NM_000497.4(CYP11B1):c.595+1G>A rs1264073726 0.00001
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys) rs182923857 0.00001
NM_001005242.3(PKP2):c.1379-1998C>T rs151212477 0.00001
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser) rs121908046 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His) rs398123588 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg) rs104894208 0.00001
NM_006294.5(UQCRB):c.306_309del (p.Arg105fs) rs886043294 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_023036.6(DNAI2):c.1697del (p.Asp566fs) rs764971993 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527 0.00001
NM_000036.3(AMPD1):c.35-7_35-4del rs398123114
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000169.3(GLA):c.842_844del (p.Val281_Thr282delinsAla) rs1555985004
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000466.3(PEX1):c.2468del (p.Pro823fs) rs766947924
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter) rs727503943
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) rs119462986
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001278512.2(AP3B2):c.3235_3238del (p.Thr1079fs) rs756807665
NM_001319074.4(RAX2):c.344C>A (p.Ser115Ter) rs398124431
NM_001379081.2(FREM1):c.4941C>A (p.Tyr1647Ter) rs373880888
NM_001848.3(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter) rs773686174
NM_001927.4(DES):c.735G>A (p.Glu245=) rs267607486
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_003865.3(HESX1):c.511_512del (p.Gln171fs) rs752434998
NM_004006.3(DMD):c.649+5G>T rs1557047808
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_005559.4(LAMA1):c.505C>T (p.Arg169Ter) rs752872595
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_019109.5(ALG1):c.115del (p.Val39fs) rs886042130
NM_033337.3(CAV3):c.10_17del (p.Glu4fs) rs778914298
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_170707.4(LMNA):c.1488+1G>A rs267607640
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
NM_206965.2(FTCD):c.1366dup (p.Glu456fs) rs777099958
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
Single allele

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