ClinVar Miner

List of variants studied for Familial cancer of breast by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793 0.00013
NM_024675.4(PALB2):c.560C>A (p.Pro187His) rs371582757 0.00006
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln) rs373789346 0.00003
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile) rs201032007 0.00003
NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg) rs878853996 0.00003
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527 0.00002
NM_032043.3(BRIP1):c.1246C>T (p.Arg416Trp) rs587780225 0.00002
NM_000051.4(ATM):c.1080T>G (p.Asp360Glu) rs199869975 0.00001
NM_000051.4(ATM):c.4010T>A (p.Ile1337Asn) rs1060501660 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000465.4(BARD1):c.986C>G (p.Ser329Cys) rs905626929 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys) rs746582620 0.00001
NM_024675.4(PALB2):c.2659A>G (p.Ile887Val) rs533814557 0.00001
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln) rs515726103 0.00001
NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met) rs1046992728 0.00001
NC_000011.10:g.(108286180_108289631)del
NM_000051.4(ATM):c.1052A>T (p.Asp351Val) rs1057521618
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del) rs876659575
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.4801dup (p.Ser1601fs)
NM_000051.4(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000059.4(BRCA2):c.5771_5774del (p.Ile1924fs) rs80359535
NM_000465.4(BARD1):c.176_177del (p.Glu59fs) rs1057517589
NM_001142556.2(HMMR):c.1962+7A>G
NM_003579.4(RAD54L):c.1769T>C (p.Met590Thr)
NM_003579.4(RAD54L):c.214G>C (p.Ala72Pro)
NM_003579.4(RAD54L):c.863del (p.Gly288fs) rs1660118680
NM_005432.4(XRCC3):c.1012C>T (p.Arg338Ter)
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_024675.4(PALB2):c.1226A>G (p.Tyr409Cys) rs878855097
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs) rs1060502734
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile) rs536644825
NM_024675.4(PALB2):c.355del (p.Gln119fs) rs1060502760
NM_024675.4(PALB2):c.728C>G (p.Thr243Ser)
NM_032043.3(BRIP1):c.3167C>G (p.Ser1056Ter) rs1603275438

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