ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Athena Diagnostics Inc and "uncertain significance" from any submitter

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 103
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HGVS dbSNP gnomAD frequency
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_002303.6(LEPR):c.1835G>A (p.Arg612His) rs144159890 0.00036
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384 0.00019
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln) rs369697947 0.00018
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln) rs191009474 0.00011
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr) rs886043191 0.00009
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454 0.00006
NM_000414.4(HSD17B4):c.58+190T>A rs1001866915 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_000092.5(COL4A4):c.3743G>A (p.Gly1248Glu) rs548799639 0.00004
NM_000500.9(CYP21A2):c.1226G>A (p.Arg409His) rs1351045983 0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368 0.00003
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala) rs375215281 0.00003
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933 0.00002
NM_000500.9(CYP21A2):c.922T>G (p.Leu308Val) rs994764994 0.00002
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983 0.00002
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu) rs149892539 0.00001
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295 0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484 0.00001
NM_000092.5(COL4A4):c.3317G>A (p.Gly1106Asp) rs1559482299 0.00001
NM_000092.5(COL4A4):c.4288G>A (p.Gly1430Arg) rs775926807 0.00001
NM_000100.4(CSTB):c.1_2insAT (p.Met1fs) rs1044894207 0.00001
NM_000162.5(GCK):c.605T>C (p.Met202Thr) rs193922311 0.00001
NM_000260.4(MYO7A):c.6356A>G (p.Gln2119Arg) rs1029122324 0.00001
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu) rs121908552 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe) rs367855127 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000530.8(MPZ):c.385G>A (p.Val129Ile) rs201156403 0.00001
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) rs121908243 0.00001
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481 0.00001
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp) rs567124920 0.00001
NM_002739.5(PRKCG):c.1764+1G>T rs1406338491 0.00001
NM_014231.5(VAMP1):c.315T>A (p.Cys105Ter) rs1237437677 0.00001
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg) rs1559878824
NM_000091.5(COL4A3):c.2593G>A (p.Gly865Ser) rs1559897190
NM_000091.5(COL4A3):c.997G>A (p.Gly333Arg) rs761819520
NM_000092.5(COL4A4):c.2456G>T (p.Gly819Val) rs1576189036
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys) rs1158350974
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.1113C>G (p.Cys371Trp) rs556581174
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro) rs193922268
NM_000162.5(GCK):c.364C>A (p.Leu122Ile) rs1554335616
NM_000162.5(GCK):c.478G>A (p.Asp160Asn) rs1554335566
NM_000162.5(GCK):c.491T>C (p.Leu164Pro) rs2096278847
NM_000162.5(GCK):c.540T>G (p.Asn180Lys) rs1554335444
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.610A>G (p.Asn204Asp) rs2128821512
NM_000162.5(GCK):c.737G>A (p.Gly246Glu) rs1583596522
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu) rs1555937244
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys) rs1576859379
NM_000388.4(CASR):c.372C>A (p.Asn124Lys) rs757571398
NM_000388.4(CASR):c.61G>A (p.Gly21Arg) rs1064794290
NM_000435.3(NOTCH3):c.1305T>G (p.Cys435Trp) rs2046907170
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu) rs879254297
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) rs1553259647
NM_000530.8(MPZ):c.88A>G (p.Ile30Val) rs1386345719
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
NM_000545.8(HNF1A):c.1781G>T (p.Ser594Ile) rs2135854451
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) rs137854298
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp) rs1555445740
NM_001009944.3(PKD1):c.12003+14_12003+33del rs1567148835
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg) rs58598099
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_001040142.2(SCN2A):c.2939C>G (p.Ala980Gly) rs1700069190
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_002055.5(GFAP):c.1171+472G>A rs748860341
NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu)
NM_003119.4(SPG7):c.69G>A (p.Trp23Ter)
NM_015046.7(SETX):c.7121_7122del (p.Val2374fs) rs765371601
NM_130837.3(OPA1):c.1174C>G (p.His392Asp) rs1553877591
NM_175914.5(HNF4A):c.577G>T (p.Asp193Tyr)
NM_175914.5(HNF4A):c.868C>T (p.Arg290Cys) rs1555817727
Single allele

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