ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Counsyl and "uncertain significance" from any submitter

Minimum review status of the submission from Counsyl: Collection method of the submission from Counsyl:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 170
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_012144.4(DNAI1):c.389-1G>C rs200488444 0.00046
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile) rs750530407 0.00011
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_000071.3(CBS):c.770C>T (p.Thr257Met) rs758236584 0.00010
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) rs150938052 0.00007
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_015346.4(ZFYVE26):c.3139+1G>A rs137907310 0.00006
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter) rs201183360 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827 0.00005
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_013339.4(ALG6):c.1A>G (p.Met1Val) rs562934427 0.00004
NM_152618.3(BBS12):c.1A>C (p.Met1Leu) rs750366365 0.00004
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718 0.00003
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His) rs778749563 0.00003
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_001164508.2(NEB):c.11910+1G>A rs774495973 0.00003
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807 0.00003
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys) rs565893436 0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375 0.00003
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716 0.00003
NM_032520.5(GNPTG):c.742-1G>T rs373976323 0.00003
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter) rs760485585 0.00002
NM_000128.4(F11):c.325G>A (p.Ala109Thr) rs768474112 0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581 0.00002
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln) rs775034584 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_002225.5(IVD):c.-8T>C rs566691073 0.00002
NM_002225.5(IVD):c.-9A>T rs373594717 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_015346.4(ZFYVE26):c.3139+2T>G rs767164213 0.00002
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772 0.00001
NM_000017.4(ACADS):c.107dup (p.Thr37fs) rs750941135 0.00001
NM_000017.4(ACADS):c.1A>G (p.Met1Val) rs1291226969 0.00001
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu) rs1085307648 0.00001
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp) rs774273767 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512 0.00001
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590 0.00001
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys) rs779930511 0.00001
NM_000124.4(ERCC6):c.1398-2A>G rs1317145066 0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414 0.00001
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729 0.00001
NM_000137.4(FAH):c.81+2T>A rs772895065 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890 0.00001
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu) rs745884647 0.00001
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052 0.00001
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232 0.00001
NM_000282.4(PCCA):c.2dup (p.Met1fs) rs1179536678 0.00001
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg) rs764220898 0.00001
NM_000352.6(ABCC8):c.2556+1G>A rs749271190 0.00001
NM_000360.4(TH):c.2T>C (p.Met1Thr) rs201932766 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.4243-2A>G rs397508705 0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568 0.00001
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys) rs182923857 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn) rs193302900 0.00001
NM_001384140.1(PCDH15):c.4211+2T>G rs753832779 0.00001
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs) rs1318756445 0.00001
NM_001875.5(CPS1):c.4274+2T>C rs1374322297 0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr) rs727504159 0.00001
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu) rs1178584184 0.00001
NM_004628.5(XPC):c.1A>G (p.Met1Val) rs763678756 0.00001
NM_005476.7(GNE):c.612G>A (p.Trp204Ter) rs786204476 0.00001
NM_007294.4(BRCA1):c.442-1G>T rs1351019392 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_152564.5(VPS13B):c.7051-1G>A rs930144563 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_000017.4(ACADS):c.910dup (p.Leu304fs) rs1057516606
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.698+1G>T rs1057517175
NM_000051.4(ATM):c.7927+5del rs786204437
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn) rs540935874
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) rs377297166
NM_000053.4(ATP7B):c.4125-2A>G rs1555282347
NM_000057.4(BLM):c.1221-2A>C rs1555419779
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.4(BRCA2):c.8754+4A>G rs81002893
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000071.3(CBS):c.162G>A (p.Trp54Ter) rs199948079
NM_000071.3(CBS):c.233C>G (p.Pro78Arg) rs786204608
NM_000071.3(CBS):c.306G>C (p.Lys102Asn) rs786204609
NM_000128.4(F11):c.1481-1G>T rs1057516506
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) rs1555547935
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.2799+2C>A rs1555603318
NM_000153.4(GALC):c.411_413del (p.Lys139del) rs1555383687
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000249.4(MLH1):c.1897-2A>G rs267607871
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000317.3(PTS):c.83+1G>A rs927103678
NM_000352.6(ABCC8):c.579+2T>A rs1449198328
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter) rs72547554
NM_000455.5(STK11):c.374+2T>C rs1555737480
NM_000487.6(ARSA):c.421C>T (p.Gln141Ter) rs1057516730
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000543.5(SMPD1):c.56del (p.Gln19fs) rs1554933746
NM_000546.6(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter) rs374507635
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001164508.2(NEB):c.5031+1G>A rs1553495140
NM_001378454.1(ALMS1):c.12462+1del rs750907119
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002878.4(RAD51D):c.1A>G (p.Met1Val) rs561425038
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu) rs561425038
NM_004628.5(XPC):c.2194dup (p.Leu732fs) rs1309116467
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs) rs886048594
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_024675.4(PALB2):c.49-2A>T rs786203245
NM_024685.4(BBS10):c.1949del (p.Gly650fs) rs769028262
NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs) rs1555202687
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter) rs886061619
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_153717.3(EVC):c.2449+1G>A rs1553893423

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