ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Color Health, Inc and "likely pathogenic" from any submitter

Minimum review status of the submission from Color Health, Inc: Collection method of the submission from Color Health, Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 164
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HGVS dbSNP
NM_000038.6(APC):c.423-3T>A rs587782293
NM_000038.6(APC):c.423-3_423-2del rs863225354
NM_000051.3(ATM):c.5858C>T (p.Thr1953Ile) rs587781963
NM_000051.3(ATM):c.6056A>G (p.Tyr2019Cys) rs876658415
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.6652A>C (p.Ser2218Arg) rs749261367
NM_000051.3(ATM):c.7307G>A (p.Arg2436Lys) rs786203394
NM_000051.3(ATM):c.7775C>G (p.Ser2592Cys) rs755009196
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000051.4(ATM):c.8151G>A (p.Lys2717=) rs1591192550
NM_000059.3(BRCA2):c.68-1G>A rs1060502376
NM_000059.3(BRCA2):c.68-1G>T rs1060502376
NM_000059.3(BRCA2):c.7786G>A (p.Gly2596Arg) rs398122591
NM_000059.3(BRCA2):c.7857G>C (p.Trp2619Cys) rs80359011
NM_000059.3(BRCA2):c.8162T>A (p.Leu2721His) rs80359061
NM_000059.3(BRCA2):c.8169T>A (p.Asp2723Glu) rs1060502432
NM_000059.3(BRCA2):c.8342A>T (p.Asn2781Ile) rs1434821822
NM_000059.3(BRCA2):c.8351G>T (p.Arg2784Leu) rs80359076
NM_000059.3(BRCA2):c.8954-3C>G rs81002844
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104
NM_000077.4(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548
NM_000077.4(CDKN2A):c.203C>T (p.Ala68Val) rs1060501260
NM_000077.4(CDKN2A):c.206A>G (p.Glu69Gly) rs372670098
NM_000077.4(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.4(CDKN2A):c.322G>A (p.Asp108Asn) rs121913381
NM_000077.4(CDKN2A):c.67G>T (p.Gly23Cys) rs1131691186
NM_000138.4(FBN1):c.3937G>A (p.Gly1313Ser) rs1156984408
NM_000169.2(GLA):c.1067G>A (p.Arg356Gln) rs869312163
NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) rs782449839
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.868A>C (p.Met290Leu) rs375538532
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000179.2(MSH6):c.3226C>G (p.Arg1076Gly) rs63750617
NM_000179.2(MSH6):c.3227G>A (p.Arg1076His) rs779617676
NM_000179.2(MSH6):c.4053_4081dup (p.Ter1361Leufs)
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del) rs267608073
NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del) rs63751427
NM_000249.3(MLH1):c.1652A>C (p.Asn551Thr) rs63750271
NM_000249.3(MLH1):c.344T>A (p.Ile115Asn) rs764120517
NM_000249.3(MLH1):c.492A>C (p.Lys164Asn) rs765014361
NM_000251.2(MSH2):c.1871T>G (p.Ile624Ser) rs1114167870
NM_000251.2(MSH2):c.1979A>G (p.Asp660Gly) rs1085308057
NM_000251.2(MSH2):c.2211-10T>A rs267608006
NM_000251.2(MSH2):c.942+3A>G rs193922376
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del) rs587779082
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.3157C>T (p.Arg1053Trp) rs730880903
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr)
NM_000432.3(MYL2):c.431_432del (p.Pro144fs) rs1566147422
NM_000432.3(MYL2):c.92_93+1del rs751392310
NM_000527.4(LDLR):c.-101T>C rs747068848
NM_000527.4(LDLR):c.-120C>T rs875989886
NM_000527.4(LDLR):c.-121T>C rs777716188
NM_000527.4(LDLR):c.-153C>T rs879254366
NM_000527.4(LDLR):c.-286C>G rs989307060
NM_000527.4(LDLR):c.1774G>A (p.Gly592Arg) rs763147599
NM_000527.4(LDLR):c.1942T>G (p.Ser648Ala)
NM_000527.4(LDLR):c.2125A>G (p.Arg709Gly) rs1057519684
NM_000527.4(LDLR):c.299A>T (p.Asp100Val) rs879254460
NM_000527.4(LDLR):c.510C>A (p.Asp170Glu) rs1060499931
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met) rs149227308
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048
NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro) rs879254968
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu) rs879254976
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys) rs875989933
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val) rs879255075
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) rs770744861
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr) rs774730452
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696
NM_000527.5(LDLR):c.233G>A (p.Arg78His) rs146675823
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr) rs764493597
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser) rs750474121
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro) rs879254495
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile) rs879254524
NM_000527.5(LDLR):c.491T>C (p.Leu164Pro) rs879254544
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser) rs375495026
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) rs776421777
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys) rs746834464
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746
NM_000527.5(LDLR):c.980A>C (p.His327Pro)
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077
NM_000546.5(TP53):c.472C>T (p.Arg158Cys) rs587780068
NM_000546.5(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000546.5(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.5(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.5(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.5(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338
NM_001128425.1(MUTYH):c.1640del (p.Ala547fs) rs587780086
NM_001128425.1(MUTYH):c.326G>C (p.Arg109Pro) rs761763725
NM_001128425.1(MUTYH):c.401A>T (p.Glu134Val) rs864622450
NM_001128425.1(MUTYH):c.44T>C (p.Met15Thr) rs201163858
NM_001128425.1(MUTYH):c.470C>T (p.Pro157Leu) rs777184451
NM_001128425.1(MUTYH):c.643G>A (p.Val215Met) rs776487884
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857
NM_001351834.2(ATM):c.4397_4398delinsCG (p.Arg1466Pro) rs886038217
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324
NM_002485.4(NBN):c.1911_1914+1del rs1554556880
NM_002485.4(NBN):c.2070+1G>A rs1554556454
NM_002485.4(NBN):c.2238C>A (p.Tyr746Ter) rs751570713
NM_002485.4(NBN):c.38-2A>G rs771475965
NM_002878.3(RAD51D):c.620C>G (p.Ser207Trp) rs370228071
NM_004329.2(BMPR1A):c.170C>G (p.Pro57Arg) rs1057517610
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp) rs1343295267
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) rs28909980
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1542+3A>G rs1060502722
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr) rs1060502688
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192
NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr) rs80357104
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter) rs778127887
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) rs193922708
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) rs876659859
NM_032043.2(BRIP1):c.1628+5G>A rs754929230
NM_032043.2(BRIP1):c.3072del (p.Ser1025fs) rs1342519012
NM_032043.2(BRIP1):c.3196del (p.Ser1066fs) rs730881645
NM_032043.2(BRIP1):c.3230T>G (p.Leu1077Ter) rs1420431000
NM_032043.2(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.2(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
NM_032043.2(BRIP1):c.3440dup (p.Asn1147fs) rs753683450
NM_032043.2(BRIP1):c.3525dup (p.Ile1176fs) rs777367075
NM_032043.3(BRIP1):c.1341-3C>G rs864622597
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs) rs778664039
NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg) rs1555602158
NM_058216.3(RAD51C):c.965+5G>A rs774586107
NM_174936.4(PCSK9):c.1399C>G rs772677312
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772
NM_174936.4(PCSK9):c.610G>A (p.Asp204Asn) rs793888521
NM_198056.2(SCN5A):c.689T>C (p.Ile230Thr) rs199473073

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