ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from PreventionGenetics, part of Exact Sciences and "pathogenic" from any submitter

Minimum review status of the submission from PreventionGenetics, part of Exact Sciences: Collection method of the submission from PreventionGenetics, part of Exact Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 150
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00532
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp) rs139084702 0.00200
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln) rs116506614 0.00073
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) rs120074114 0.00071
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) rs200484521 0.00066
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys) rs528448732 0.00048
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563 0.00031
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp) rs145541911 0.00030
NM_004482.4(GALNT3):c.16C>T (p.Arg6Ter) rs376963628 0.00029
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_144666.3(DNHD1):c.2683C>T (p.Gln895Ter) rs929548279 0.00024
NM_016180.5(SLC45A2):c.365A>G (p.Asn122Ser) rs145379710 0.00021
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_005912.3(MC4R):c.508A>G (p.Ile170Val) rs121913560 0.00016
NM_018161.5(NADSYN1):c.395G>T (p.Trp132Leu) rs189928649 0.00016
NM_001458.5(FLNC):c.970-4A>G rs532143625 0.00015
NM_020774.4(MIB1):c.2827G>T (p.Val943Phe) rs200035428 0.00013
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621 0.00012
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys) rs148562777 0.00012
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_025103.4(IFT74):c.1024C>T (p.Gln342Ter) rs377639405 0.00011
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000370.3(TTPA):c.575G>A (p.Arg192His) rs121917850 0.00010
NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln) rs139484231 0.00009
NM_005430.4(WNT1):c.506G>A (p.Gly169Asp) rs371672410 0.00009
NM_005560.6(LAMA5):c.3728C>T (p.Pro1243Leu) rs756101090 0.00009
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_019616.4(F7):c.781C>T (p.Arg261Trp) rs779589651 0.00008
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_003356.4(UCP3):c.208C>T (p.Arg70Trp) rs17848368 0.00007
NM_004134.7(HSPA9):c.882_883del (p.Gly295_Val296insTer) rs772570880 0.00006
NM_005548.3(KARS1):c.85G>C (p.Ala29Pro) rs369238198 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_000094.4(COL7A1):c.8206G>A (p.Glu2736Lys) rs779942952 0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260 0.00004
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) rs374694591 0.00004
NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala) rs387907058 0.00004
NM_000540.3(RYR1):c.5120G>A (p.Arg1707His) rs371566475 0.00003
NM_003773.5(HYAL2):c.829C>T (p.Arg277Cys) rs142405670 0.00003
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser) rs386833848 0.00003
NM_017837.4(PIGV):c.146C>A (p.Ser49Ter) rs145160045 0.00003
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390 0.00002
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val) rs193922791 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_002435.3(MPI):c.487+2del rs1057516550 0.00002
NM_177972.3(TUB):c.1387+1G>A rs1040410003 0.00002
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000069.3(CACNA1S):c.3414+3A>T rs892742196 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000094.4(COL7A1):c.8654G>A (p.Cys2885Tyr) rs749519562 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.2293G>C (p.Gly765Arg) rs1380227293 0.00001
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys) rs769744438 0.00001
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly) rs1568484835 0.00001
NM_000540.3(RYR1):c.6584C>T (p.Pro2195Leu) rs772003357 0.00001
NM_000540.3(RYR1):c.6700C>T (p.Arg2234Cys) rs201465595 0.00001
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568 0.00001
NM_001005242.3(PKP2):c.1379-1998C>T rs151212477 0.00001
NM_005912.3(MC4R):c.821A>G (p.Asn274Ser) rs121913561 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp) rs765730332 0.00001
NM_206933.4(USH2A):c.12958G>C (p.Asp4320His) rs140202956 0.00001
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln) rs1555396428
NM_000143.4(FH):c.1022A>G (p.Asp341Gly) rs1060499640
NM_000216.4(ANOS1):c.515G>A (p.Cys172Tyr) rs1930749813
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000275.3(OCA2):c.1275_1277del (p.Met425del) rs752510351
NM_000350.3(ABCA4):c.5531G>A (p.Gly1844Asp) rs1659540498
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000363.5(TNNI3):c.548A>C (p.Lys183Thr) rs730881078
NM_000372.5(TYR):c.547G>A (p.Val183Met) rs141930049
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr) rs1553414563
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000531.6(OTC):c.793T>C (p.Trp265Arg) rs72558445
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr) rs777016690
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp) rs753208767
NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro) rs118192179
NM_000540.3(RYR1):c.14471T>C (p.Leu4824Pro) rs193922874
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg) rs150495044
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg) rs193922744
NM_000540.3(RYR1):c.6612C>G (p.His2204Gln) rs141646642
NM_000540.3(RYR1):c.6757C>T (p.His2253Tyr) rs917523269
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met) rs746971794
NM_000540.3(RYR1):c.7396C>T (p.Leu2466Phe) rs767343838
NM_000540.3(RYR1):c.7522C>G (p.Arg2508Gly) rs118192178
NM_000540.3(RYR1):c.982C>T (p.Arg328Trp) rs193922762
NM_001024630.4(RUNX2):c.388T>C (p.Trp130Arg) rs2150362649
NM_001098.3(ACO2):c.487G>T (p.Val163Leu) rs759920667
NM_001126128.2(PROK2):c.297dup (p.Gly100fs) rs768413190
NM_001145809.2(MYH14):c.359C>T (p.Ser120Leu) rs119103281
NM_001148.6(ANK2):c.1937C>T (p.Ser646Phe) rs786205724
NM_001273.5(CHD4):c.3326T>C (p.Ile1109Thr) rs2136213384
NM_001282531.3(ADNP):c.3069_3072del (p.Arg1023fs) rs1279657093
NM_001312909.2(FAM111A):c.364C>T (p.Gln122Ter)
NM_001356.5(DDX3X):c.1769G>A (p.Ser590Asn)
NM_001370259.2(MEN1):c.1050-3C>G
NM_001615.4(ACTG2):c.584C>T (p.Thr195Ile) rs1057520694
NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln) rs1553396458
NM_001759.4(CCND2):c.842C>G (p.Pro281Arg) rs587777622
NM_001852.4(COL9A2):c.1242del (p.Gly415fs) rs756694568
NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg) rs1672165764
NM_001903.5(CTNNA1):c.99del (p.Thr34fs)
NM_001939.3(DRP2):c.1006C>T (p.Gln336Ter)
NM_004287.5(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004793.4(LONP1):c.1913C>T (p.Thr638Met) rs757666530
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_005477.3(HCN4):c.1471G>A (p.Asp491Asn) rs1060500107
NM_006009.4(TUBA1A):c.640C>T (p.Arg214Cys) rs886044568
NM_006031.6(PCNT):c.8563C>T (p.Arg2855Ter)
NM_006231.4(POLE):c.1180C>T (p.Gln394Ter) rs1565975090
NM_006231.4(POLE):c.1A>G (p.Met1Val) rs878854847
NM_006231.4(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.4(POLE):c.2091dup (p.Phe699fs) rs752846614
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006891.4(CRYGD):c.176G>A (p.Arg59His) rs121909596
NM_006907.4(PYCR1):c.349G>T (p.Val117Phe) rs1356658811
NM_014264.5(PLK4):c.2209_2210del (p.Glu737fs)
NM_015178.3(RHOBTB2):c.293G>A (p.Gly98Glu)
NM_016239.4(MYO15A):c.92del (p.Lys31fs)
NM_018993.4(RIN2):c.40C>T (p.Arg14Ter)
NM_019109.5(ALG1):c.115del (p.Val39fs) rs886042130
NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu) rs764396564
NM_147196.3(TMIE):c.211+1G>C
NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr) rs886041860
NM_177559.3(CSNK2A1):c.400C>T (p.Arg134Ter) rs2122537652
NM_178012.5(TUBB2B):c.533C>T (p.Thr178Met) rs1057520391
NM_198904.4(GABRG2):c.1334G>T (p.Arg445Leu) rs587780341
UGT1A1*37 rs3064744

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