ClinVar Miner

List of variants studied for hereditary breast ovarian cancer syndrome by Molecular Oncology Research Center, Barretos Cancer Hospital

Included ClinVar conditions (34):
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ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_004833.3(AIM2):c.1030T>G (p.Ter344Glu) rs74689714 0.01135
NM_199420.4(POLQ):c.4262_4268del (p.Ile1421fs) rs546221341 0.00558
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_001017420.3(ESCO2):c.1735C>A (p.Pro579Thr) rs115144373 0.00393
NM_003579.4(RAD54L):c.604C>T (p.Arg202Cys) rs28363218 0.00269
NM_002276.5(KRT19):c.560G>A (p.Arg187His) rs117671585 0.00208
NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys) rs61754098 0.00199
NM_014967.5(FAN1):c.149T>G (p.Met50Arg) rs148404807 0.00191
NM_130398.4(EXO1):c.820G>A (p.Gly274Arg) rs149397534 0.00189
NM_004716.4(PCSK7):c.613G>A (p.Gly205Ser) rs143209024 0.00104
NM_001135254.2(PAX7):c.602A>G (p.Glu201Gly) rs201602654 0.00068
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00063
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys) rs138218277 0.00062
NM_002907.4(RECQL):c.401C>T (p.Thr134Ile) rs150306543 0.00049
NM_001145160.2(TPM4):c.59A>T (p.Asp20Val) rs373696275 0.00046
NM_021025.4(TLX3):c.695A>G (p.Glu232Gly) rs200588592 0.00042
NM_002950.4(RPN1):c.712C>T (p.His238Tyr) rs138936459 0.00031
NM_144997.7(FLCN):c.871+158A>C rs201282009 0.00028
NM_000124.4(ERCC6):c.1801G>A (p.Gly601Ser) rs138758064 0.00020
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00015
NM_003235.5(TG):c.3149G>T (p.Trp1050Leu) rs142124591 0.00014
NM_004972.4(JAK2):c.1759C>A (p.His587Asn) rs149705816 0.00010
NM_198253.3(TERT):c.3332C>T (p.Thr1111Met) rs370686937 0.00010
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_015323.5(UFL1):c.2114C>G (p.Pro705Arg) rs199880163 0.00009
NM_002167.5(ID3):c.145T>A (p.Ser49Thr) rs146163818 0.00008
NM_005591.4(MRE11):c.482A>G (p.Lys161Arg) rs587782294 0.00007
NM_021922.3(FANCE):c.329C>T (p.Pro110Leu) rs371485747 0.00006
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_001844.5(COL2A1):c.578G>A (p.Gly193Asp) rs764878166 0.00004
NM_003384.3(VRK1):c.683C>T (p.Thr228Met) rs146113610 0.00004
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu) rs750746034 0.00003
NM_001377530.1(DMBT1):c.2018G>A (p.Gly673Glu) rs377585441 0.00003
NM_003579.4(RAD54L):c.1094G>A (p.Arg365Gln) rs369552170 0.00003
NM_001110556.2(FLNA):c.5965C>T (p.Pro1989Ser) rs1557176194 0.00002
NM_001127671.2(LIFR):c.3089C>T (p.Pro1030Leu) rs1439167190 0.00002
NM_001348946.2(ABCB1):c.3412C>T (p.Arg1138Trp) rs773597757 0.00002
NM_005904.4(SMAD7):c.713C>T (p.Thr238Met) rs773511006 0.00002
NM_000179.3(MSH6):c.2885T>C (p.Ile962Thr) rs778287080 0.00001
NM_000369.5(TSHR):c.1670T>G (p.Leu557Trp) rs1237819854 0.00001
NM_001128148.3(TFRC):c.2123C>T (p.Thr708Met) rs866295059 0.00001
NM_001429.4(EP300):c.4532A>G (p.Asn1511Ser) rs763860567 0.00001
NM_002359.4(MAFG):c.355C>T (p.Arg119Trp) rs773528916 0.00001
NM_002844.4(PTPRK):c.4196G>A (p.Arg1399Gln) rs771714409 0.00001
NM_003797.5(EED):c.154C>T (p.Arg52Cys) rs772993565 0.00001
NM_004060.4(CCNG1):c.441G>C (p.Trp147Cys) rs747511557 0.00001
NM_004111.6(FEN1):c.311G>A (p.Arg104Gln) rs750703675 0.00001
NM_004472.3(FOXD1):c.415C>G (p.Leu139Val) rs1745537616 0.00001
NM_005228.5(EGFR):c.352G>T (p.Ala118Ser) rs1249939049 0.00001
NM_005884.5(PAK4):c.61G>A (p.Val21Met) rs146583353 0.00001
NM_006148.4(LASP1):c.206C>T (p.Pro69Leu) rs746452006 0.00001
NM_006266.4(RALGDS):c.1220C>T (p.Pro407Leu) rs1831111381 0.00001
NM_006293.4(TYRO3):c.1628C>T (p.Ser543Phe) rs751069987 0.00001
NM_006342.3(TACC3):c.98C>A (p.Ser33Ter) rs905523646 0.00001
NM_006424.3(SLC34A2):c.113-2A>G rs1714268814 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_015344.3(LEPROTL1):c.193G>A (p.Ala65Thr) rs779019360 0.00001
NM_015641.4(TES):c.1166T>C (p.Phe389Ser) rs754828812 0.00001
NM_000222.3(KIT):c.50T>C (p.Leu17Pro) rs748615975
NM_000248.4(MITF):c.1A>G (p.Met1Val) rs760273611
NM_000264.5(PTCH1):c.454A>G (p.Met152Val) rs766905791
NM_000534.5(PMS1):c.1039G>A (p.Glu347Lys) rs1196147116
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs) rs1554294508
NM_001020658.2(PUM1):c.229G>C (p.Asp77His) rs2124008207
NM_001039803.3(CDK20):c.704dup (p.Asp236fs) rs2118200018
NM_001048174.2(MUTYH):c.1149del (p.Ser384fs) rs2149120608
NM_001080391.2(SP100):c.2282dup (p.His761fs) rs2150117616
NM_001282597.3(CTNNA2):c.103-1G>A rs2104990962
NM_001322934.2(NFKB2):c.2531T>C (p.Val844Ala) rs1450204584
NM_001354930.2(RIPK1):c.1802_1805del (p.Cys601fs) rs2113726155
NM_001382347.1(MYO5A):c.4591C>G (p.Pro1531Ala) rs2038687080
NM_001382508.1(DROSHA):c.1498G>T (p.Glu500Ter) rs2150052710
NM_001903.5(CTNNA1):c.1206_1207insCC (p.Val403fs) rs2150032416
NM_001975.3(ENO2):c.1235+2_1235+5dup rs2138190524
NM_002160.4(TNC):c.5987G>C (p.Gly1996Ala) rs2131648755
NM_002298.5(LCP1):c.1122C>A (p.Tyr374Ter) rs1376923782
NM_002498.3(NEK3):c.29T>A (p.Ile10Asn) rs201880627
NM_002608.4(PDGFB):c.540T>G (p.Cys180Trp) rs938487402
NM_002660.3(PLCG1):c.3446T>C (p.Ile1149Thr) rs761555687
NM_002913.5(RFC1):c.2011T>A (p.Tyr671Asn) rs2109618140
NM_003211.6(TDG):c.1090_1090+1insTTGAGAGC rs765686214
NM_004284.6(CHD1L):c.1256T>C (p.Leu419Pro) rs782747449
NM_004713.6(NEMF):c.161C>A (p.Ser54Tyr) rs2168538
NM_004827.3(ABCG2):c.802G>A (p.Gly268Arg) rs1165564275
NM_004985.5(KRAS):c.461A>G (p.Asp154Gly) rs2141481712
NM_005244.5(EYA2):c.751G>T (p.Gly251Cys) rs780344200
NM_006622.4(PLK2):c.1004dup (p.Leu335fs) rs772701630
NM_007191.5(WIF1):c.608G>A (p.Gly203Glu) rs751879347
NM_013437.5(LRP12):c.1442A>G (p.Asp481Gly) rs2140832143
NM_014567.5(BCAR1):c.12+2T>C rs1597262107
NM_014576.4(A1CF):c.107G>A (p.Gly36Glu) rs1034920556
NM_014685.4(HERPUD1):c.584_585del (p.Phe195fs) rs2144823719
NM_014791.4(MELK):c.693G>A (p.Trp231Ter) rs770129579
NM_014967.5(FAN1):c.2524T>C (p.Tyr842His) rs2062530808
NM_016252.4(BIRC6):c.9838C>T (p.Leu3280Phe) rs546321608
NM_016373.4(WWOX):c.253T>G (p.Tyr85Asp) rs781063964
NM_018117.12(WDR11):c.797G>C (p.Arg266Pro) rs774442833
NM_020806.5(GPHN):c.1471A>T (p.Arg491Ter) rs2153686282
NM_021818.4(SAV1):c.604C>T (p.Pro202Ser) rs924027603
NM_024408.4(NOTCH2):c.455C>T (p.Pro152Leu) rs782662504
NM_025205.5(MED28):c.52C>T (p.Gln18Ter) rs1467250189
NM_032264.6(NBPF3):c.2T>C (p.Met1Thr) rs1396666499
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs) rs1555602141
NM_080911.3(UNG):c.289A>T (p.Ser97Cys) rs2135882458
NM_138578.3(BCL2L1):c.674T>C (p.Leu225Pro) rs2122387594
NM_145206.4(VTI1A):c.532T>C (p.Ser178Pro) rs2133836443
NM_181351.5(NCAM1):c.25T>A (p.Trp9Arg) rs1555063042
NM_198123.2(CSMD3):c.4187T>G (p.Met1396Arg) rs2131224457
NM_198834.3(ACACA):c.541A>T (p.Met181Leu) rs2146590612

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