ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Athena Diagnostics Inc and "likely pathogenic" 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: 179
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) rs200631556 0.00090
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_145207.3(AFG2A):c.1964G>A (p.Arg655Gln) rs147873489 0.00058
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00054
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00048
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) rs72648922 0.00020
NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile) rs201273304 0.00018
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00014
NM_182961.4(SYNE1):c.226-2dup rs774388631 0.00013
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) rs199638166 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln) rs200069592 0.00011
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856 0.00010
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731 0.00006
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys) rs200151282 0.00006
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) rs543697946 0.00006
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter) rs201378067 0.00005
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_000540.3(RYR1):c.4361C>T (p.Pro1454Leu) rs149737658 0.00004
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser) rs373386030 0.00004
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) rs765181341 0.00003
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His) rs45627438 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_000023.4(SGCA):c.242G>A (p.Arg81His) rs747984529 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu) rs778585043 0.00002
NM_002693.3(POLG):c.1250+5G>T rs751221993 0.00002
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp) rs556925652 0.00002
NM_002693.3(POLG):c.1808T>C (p.Met603Thr) rs367610201 0.00002
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser) rs759806045 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys) rs371188899 0.00002
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys) rs367584549 0.00002
NM_030962.4(SBF2):c.4394G>A (p.Gly1465Glu) rs762165359 0.00002
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6807G>A (p.Gln2269=) rs587780638 0.00001
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu) rs139836397 0.00001
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val) rs918420911 0.00001
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000162.5(GCK):c.951C>G (p.His317Gln) rs1379908545 0.00001
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr) rs1318966106 0.00001
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691 0.00001
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr) rs1266053680 0.00001
NM_000454.5(SOD1):c.193T>C (p.Phe65Leu) rs1030039318 0.00001
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln) rs267601810 0.00001
NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys) rs1174593640 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.9149T>A (p.Val3050Asp) rs1157851269 0.00001
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399 0.00001
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu) rs758210285 0.00001
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) rs1286294151 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp) rs1041531529 0.00001
NM_003119.4(SPG7):c.1552+2dup rs1567928509 0.00001
NM_004621.6(TRPC6):c.643C>T (p.Arg215Trp) rs768210838 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_014625.4(NPHS2):c.416T>G (p.Leu139Arg) rs1345260812 0.00001
NM_014946.4(SPAST):c.1783A>G (p.Ser595Gly) rs1553321245 0.00001
NM_033109.5(PNPT1):c.337C>T (p.Pro113Ser) rs930190521 0.00001
NM_080916.3(DGUOK):c.757_759del (p.Asn253del) rs775276142 0.00001
NM_000021.4(PSEN1):c.703C>G (p.Leu235Val) rs63751130
NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu) rs529296539
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu) rs1380726444
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val) rs2116373070
NM_000088.4(COL1A1):c.3823T>C (p.Trp1275Arg) rs1555571769
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.5(GCK):c.1147T>C (p.Ser383Pro) rs749298368
NM_000162.5(GCK):c.1151C>T (p.Ala384Val) rs1583591747
NM_000162.5(GCK):c.115_117del (p.Lys39del) rs2096283216
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp) rs2096271482
NM_000162.5(GCK):c.1229G>A (p.Gly410Asp) rs1554334546
NM_000162.5(GCK):c.122T>C (p.Met41Thr) rs1057524906
NM_000162.5(GCK):c.1247A>C (p.His416Pro) rs1583591303
NM_000162.5(GCK):c.1255T>C (p.Phe419Leu) rs1554334478
NM_000162.5(GCK):c.364C>G (p.Leu122Val) rs1554335616
NM_000162.5(GCK):c.477C>G (p.Ile159Met) rs1554335567
NM_000162.5(GCK):c.595G>A (p.Val199Met) rs1554335417
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000162.5(GCK):c.623C>T (p.Ala208Val) rs746913146
NM_000162.5(GCK):c.688T>C (p.Cys230Arg) rs794727839
NM_000162.5(GCK):c.730G>A (p.Val244Met) rs1240035630
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1]) rs116840823
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.4(PMP22):c.418T>C (p.Trp140Arg) rs1555564040
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu) rs121908545
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His) rs748517635
NM_000344.4(SMN1):c.818A>T (p.His273Leu) rs1554082114
NM_000371.4(TTR):c.194C>T (p.Ala65Val) rs730881169
NM_000371.4(TTR):c.220G>C (p.Glu74Gln) rs1555631393
NM_000371.4(TTR):c.326A>T (p.Glu109Val) rs2073511444
NM_000388.4(CASR):c.101T>C (p.Leu34Pro) rs1559955362
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser) rs2107649591
NM_000426.4(LAMA2):c.8244+3_8244+6del rs746678525
NM_000444.6(PHEX):c.1960T>A (p.Phe654Ile) rs1935508894
NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln)
NM_000478.6(ALPL):c.643A>G (p.Ile215Val)
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala) rs1553259760
NM_000540.3(RYR1):c.6707T>G (p.Leu2236Arg) rs1969830618
NM_000545.8(HNF1A):c.526+5_526+8del rs2135833007
NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp) rs1555211922
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del) rs1555444468
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln) rs1616940
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg) rs1616940
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del) rs2092482302
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu) rs2092438025
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro) rs1567191044
NM_001040142.2(SCN2A):c.4534C>T (p.Pro1512Ser) rs1558879940
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro) rs199474733
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) rs886041309
NM_001127222.2(CACNA1A):c.3946G>A (p.Asp1316Asn) rs1568485068
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln) rs1568447650
NM_001127222.2(CACNA1A):c.631+5G>A rs786200963
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs) rs1275153634
NM_001291415.2(KDM6A):c.3811T>C (p.Trp1271Arg) rs2045816079
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg) rs1553757628
NM_001378969.1(KCND3):c.1051T>C (p.Phe351Leu) rs1064794895
NM_001540.5(HSPB1):c.438dup (p.Gly147fs) rs747325717
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) rs782217473
NM_002055.5(GFAP):c.209G>A (p.Arg70Gln) rs267607510
NM_002693.3(POLG):c.2265+1G>A
NM_002693.3(POLG):c.2287G>C (p.Gly763Arg) rs1567187837
NM_002739.5(PRKCG):c.1764+1G>A rs1406338491
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile) rs758702550
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro) rs1228791562
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser) rs397516863
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004082.5(DCTN1):c.279+1G>T rs1393363759
NM_004092.4(ECHS1):c.412G>A (p.Ala138Thr)
NM_004977.3(KCNC3):c.1196C>T (p.Ser399Leu) rs1437049667
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del) rs747618525
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) rs1598820805
NM_014874.4(MFN2):c.239G>T (p.Gly80Val) rs139827903
NM_014874.4(MFN2):c.711A>T (p.Glu237Asp) rs1557525000
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro) rs1558331867
NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg) rs1553318317
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln) rs397514712
NM_018319.4(TDP1):c.341_342del (p.Lys114fs) rs769278668
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu) rs61995958
NM_020320.5(RARS2):c.-2A>G rs201150141
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_024411.5(PDYN):c.658_659del (p.Trp220fs) rs748307861
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro) rs1553877946
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173
NM_130837.3(OPA1):c.2126A>G (p.Asp709Gly) rs2109139343
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro) rs397517902
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
NM_198994.3(TGM6):c.1430_1439del (p.Gly477fs) rs760886419
Single allele

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