ClinVar Miner

List of variants reported as pathogenic by Database of Curated Mutations (DoCM)

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 230
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.2089C>T (p.His697Tyr) rs763308199 0.00010
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569 0.00006
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met) rs113994091 0.00004
NM_000222.3(KIT):c.1964A>G (p.Asn655Ser) rs1057519707 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn) rs864309584 0.00001
NM_004448.4(ERBB2):c.2686C>T (p.Arg896Cys) rs758222990 0.00001
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) rs121913530 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_004985.5(KRAS):c.437C>T (p.Ala146Val) rs1057519725 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_000125.4(ESR1):c.1387T>C (p.Ser463Pro) rs1057519714
NM_000125.4(ESR1):c.1601T>A (p.Val534Glu) rs1057519715
NM_000125.4(ESR1):c.1604C>A (p.Pro535His) rs1057519716
NM_000125.4(ESR1):c.1607T>G (p.Leu536Arg) rs1057519717
NM_000222.3(KIT):c.1468G>A (p.Glu490Lys) rs1057519701
NM_000222.3(KIT):c.1510T>C (p.Phe504Leu) rs1057519702
NM_000222.3(KIT):c.1650A>C (p.Lys550Asn) rs1057519703
NM_000222.3(KIT):c.1650A>T (p.Lys550Asn) rs1057519703
NM_000222.3(KIT):c.1657T>A (p.Tyr553Asn) rs1057519704
NM_000222.3(KIT):c.1669T>A (p.Trp557Arg) rs121913235
NM_000222.3(KIT):c.1669T>C (p.Trp557Arg) rs121913235
NM_000222.3(KIT):c.1674G>C (p.Lys558Asn) rs200375589
NM_000222.3(KIT):c.1674G>T (p.Lys558Asn) rs200375589
NM_000222.3(KIT):c.1676T>A (p.Val559Asp) rs121913517
NM_000222.3(KIT):c.1676T>C (p.Val559Ala) rs121913517
NM_000222.3(KIT):c.1676T>G (p.Val559Gly) rs121913517
NM_000222.3(KIT):c.1676TTG[1] (p.Val560del) rs121913685
NM_000222.3(KIT):c.1679T>A (p.Val560Asp) rs121913521
NM_000222.3(KIT):c.1679T>C (p.Val560Ala) rs121913521
NM_000222.3(KIT):c.1679T>G (p.Val560Gly) rs121913521
NM_000222.3(KIT):c.1696A>G (p.Asn566Asp) rs1057519705
NM_000222.3(KIT):c.1706T>G (p.Val569Gly) rs1057519706
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro) rs121913513
NM_000222.3(KIT):c.1730_1738del (p.Pro577_Asp579del) rs1131692239
NM_000222.3(KIT):c.1961T>C (p.Val654Ala) rs121913523
NM_000222.3(KIT):c.1965T>A (p.Asn655Lys) rs1057519708
NM_000222.3(KIT):c.1965T>G (p.Asn655Lys) rs1057519708
NM_000222.3(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000222.3(KIT):c.2446_2447delinsAT (p.Asp816Ile) rs1057519709
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.3(KIT):c.2458G>C (p.Asp820His) rs1057519710
NM_000222.3(KIT):c.2458G>T (p.Asp820Tyr) rs1057519710
NM_000222.3(KIT):c.2460T>A (p.Asp820Glu) rs1057519711
NM_000222.3(KIT):c.2465A>T (p.Asn822Ile) rs993022333
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys) rs121913514
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys) rs121913514
NM_000222.3(KIT):c.2485G>C (p.Ala829Pro) rs1057519713
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.477G>T (p.Arg159Ser) rs1057519724
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.800del (p.Lys267fs) rs121913289
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) rs121913403
NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe) rs121913403
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) rs121913409
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_002067.5(GNA11):c.626A>C (p.Gln209Pro) rs1057519742
NM_002067.5(GNA11):c.626A>T (p.Gln209Leu) rs1057519742
NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro) rs121913492
NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg) rs121913492
NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu) rs121913492
NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) rs267606870
NM_002168.4(IDH2):c.419G>T (p.Arg140Leu) rs121913502
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys) rs121913503
NM_002168.4(IDH2):c.515G>T (p.Arg172Met) rs121913503
NM_002168.4(IDH2):c.516G>C (p.Arg172Ser) rs1057519736
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.181C>G (p.Gln61Glu) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.182_183delinsGG (p.Gln61Arg) rs1057519695
NM_002524.5(NRAS):c.182_183delinsTG (p.Gln61Leu) rs1057519695
NM_002524.5(NRAS):c.183A>C (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.37G>T (p.Gly13Cys) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.38G>C (p.Gly13Ala) rs121434596
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002755.4(MAP2K1):c.1144A>C (p.Asn382His) rs1057519735
NM_002755.4(MAP2K1):c.157T>C (p.Phe53Leu) rs1057519728
NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro) rs1057519729
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.332T>G (p.Ile111Ser) rs1057519730
NM_002755.4(MAP2K1):c.362G>C (p.Cys121Ser) rs1057519731
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys) rs1057519733
NM_002755.4(MAP2K1):c.790C>T (p.Pro264Ser) rs1057519734
NM_004119.3(FLT3):c.2503G>A (p.Asp835Asn) rs121913488
NM_004119.3(FLT3):c.2503G>C (p.Asp835His) rs121913488
NM_004119.3(FLT3):c.2503G>T (p.Asp835Tyr) rs121913488
NM_004119.3(FLT3):c.2504A>C (p.Asp835Ala) rs121909646
NM_004119.3(FLT3):c.2504A>T (p.Asp835Val) rs121909646
NM_004119.3(FLT3):c.2505T>A (p.Asp835Glu) rs121913487
NM_004119.3(FLT3):c.2505T>G (p.Asp835Glu) rs121913487
NM_004119.3(FLT3):c.2506A>C (p.Ile836Leu) rs1057519726
NM_004119.3(FLT3):c.2508C>G (p.Ile836Met) rs121913232
NM_004304.5(ALK):c.3512T>A (p.Ile1171Asn) rs1057519698
NM_004304.5(ALK):c.3520T>A (p.Phe1174Ile) rs281864719
NM_004304.5(ALK):c.3520T>G (p.Phe1174Val) rs281864719
NM_004304.5(ALK):c.3521T>G (p.Phe1174Cys) rs1057519697
NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu) rs863225281
NM_004304.5(ALK):c.3673G>A (p.Asp1225Asn) rs1057519696
NM_004304.5(ALK):c.3733T>G (p.Phe1245Val) rs281864720
NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys) rs863225283
NM_004304.5(ALK):c.3735C>G (p.Phe1245Leu) rs863225284
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004304.5(ALK):c.3833A>C (p.Tyr1278Ser) rs863225285
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) rs121913351
NM_004333.6(BRAF):c.1405_1406delinsTT (p.Gly469Leu) rs1057519720
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) rs121913355
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) rs121913355
NM_004333.6(BRAF):c.1415A>G (p.Tyr472Cys) rs1057519719
NM_004333.6(BRAF):c.1779_1780delinsGA (p.Asp594Asn) rs1057519718
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1782T>A (p.Asp594Glu) rs121913337
NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu) rs121913337
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg) rs121913361
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.1789_1790delinsTC (p.Leu597Ser) rs121913368
NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln) rs121913366
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg) rs121913366
NM_004333.6(BRAF):c.1798G>A (p.Val600Met) rs121913378
NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys) rs121913227
NM_004333.6(BRAF):c.1798_1799delinsAG (p.Val600Arg) rs121913227
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) rs113488022
NM_004333.6(BRAF):c.1799_1800delinsAT (p.Val600Asp) rs121913377
NM_004448.4(ERBB2):c.2264_2278del (p.Leu755_Thr759del) rs1131692241
NM_004448.4(ERBB2):c.2305G>C (p.Asp769His) rs121913468
NM_004448.4(ERBB2):c.2305G>T (p.Asp769Tyr) rs121913468
NM_004448.4(ERBB2):c.2329G>T (p.Val777Leu) rs121913471
NM_004448.4(ERBB2):c.2333_2334insGCTCCCCAG (p.Gly778_Ser779insLeuProSer) rs1057519737
NM_004448.4(ERBB2):c.2524G>A (p.Val842Ile) rs1057519738
NM_004667.6(HERC2):c.2263_2277del (p.Leu755_Asp759del) rs1555444543
NM_004667.6(HERC2):c.2264T>C (p.Leu755Ser) rs1057519727
NM_004667.6(HERC2):c.926C>G (p.Ala309Gly) rs752908306
NM_004972.4(JAK2):c.2047A>G (p.Arg683Gly) rs1057519721
NM_004972.4(JAK2):c.2048G>C (p.Arg683Thr) rs1057519722
NM_004972.4(JAK2):c.2049A>C (p.Arg683Ser) rs1057519723
NM_004972.4(JAK2):c.2049A>T (p.Arg683Ser) rs1057519723
NM_004985.5(KRAS):c.181C>A (p.Gln61Lys) rs121913238
NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) rs121913240
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) rs121913240
NM_004985.5(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) rs121913530
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys) rs121913530
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) rs121913535
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys) rs121913535
NM_004985.5(KRAS):c.38G>T (p.Gly13Val) rs112445441
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) rs28929495
NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys) rs28929495
NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala) rs121913428
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) rs121434568
NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln) rs121913444
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) rs121913233
NM_005343.4(HRAS):c.34G>C (p.Gly12Arg) rs104894229
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005359.6(SMAD4):c.1051G>A (p.Asp351Asn) rs1057519739
NM_005359.6(SMAD4):c.1051G>C (p.Asp351His) rs1057519739
NM_005359.6(SMAD4):c.1065C>A (p.Asp355Glu) rs1057519740
NM_005359.6(SMAD4):c.1081C>A (p.Arg361Ser) rs80338963
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.1609G>T (p.Asp537Tyr) rs1057519741
NM_005359.6(SMAD4):c.989A>C (p.Glu330Ala) rs281875324
NM_005631.5(SMO):c.1417G>C (p.Asp473His) rs17710891
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_005896.4(IDH1):c.395G>C (p.Arg132Pro) rs121913500
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_006182.4(DDR2):c.2304T>A (p.Ser768Arg) rs267598140
NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp) rs121908586
NM_006206.6(PDGFRA):c.1977C>A (p.Asn659Lys) rs1057519700
NM_006206.6(PDGFRA):c.1977C>G (p.Asn659Lys) rs1057519700
NM_006206.6(PDGFRA):c.2525A>T (p.Asp842Val) rs121908585
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.1634A>T (p.Glu545Val) rs121913274
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) rs121913286
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro) rs397517201
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu) rs397517201
NM_006218.4(PIK3CA):c.1645G>A (p.Asp549Asn) rs1057519699
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_022148.4(CRLF2):c.695T>G (p.Phe232Cys) rs1057519743
NM_022552.5(DNMT3A):c.2644C>A (p.Arg882Ser) rs377577594
NM_022552.5(DNMT3A):c.2644C>G (p.Arg882Gly) rs377577594
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro) rs147001633
NM_022552.5(DNMT3A):c.2645G>T (p.Arg882Leu) rs147001633
NM_033360.4(KRAS):c.182A>C (p.Gln61Pro) rs121913240
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn) rs770248150
NM_033360.4(KRAS):c.351A>T (p.Lys117Asn) rs770248150
NM_033360.4(KRAS):c.37G>A (p.Gly13Ser) rs121913535
NM_033360.4(KRAS):c.38G>C (p.Gly13Ala) rs112445441
NM_033360.4(KRAS):c.436G>C (p.Ala146Pro) rs121913527

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.