ClinVar Miner

List of variants studied for Familial cancer of breast by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926 0.00027
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr) rs555219189 0.00018
NM_000465.4(BARD1):c.2183C>T (p.Ser728Phe) rs13389423 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_004360.5(CDH1):c.2249A>G (p.Asp750Gly) rs759608783 0.00004
NM_000051.4(ATM):c.2414G>A (p.Arg805Gln) rs587782255 0.00003
NM_000051.4(ATM):c.127C>G (p.Leu43Val) rs772591447 0.00001
NM_000051.4(ATM):c.1363G>A (p.Val455Met) rs368879876 0.00001
NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser) rs202028401 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.8915A>G (p.Gln2972Arg) rs763773991 0.00001
NM_000051.4(ATM):c.2426C>T (p.Ser809Leu) rs730881348
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.4(ATM):c.6475T>C (p.Cys2159Arg) rs150408832
NM_000051.4(ATM):c.6556G>A (p.Gly2186Arg) rs2136242830
NM_000051.4(ATM):c.6968G>T (p.Cys2323Phe) rs876660924
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys) rs786203394
NM_000051.4(ATM):c.928A>G (p.Ser310Gly) rs745773225
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.5583dup (p.Val1862fs) rs397507790
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter) rs397507409
NM_000465.4(BARD1):c.1207A>G (p.Ser403Gly) rs1060501286
NM_000465.4(BARD1):c.1314G>A (p.Lys438=)
NM_000465.4(BARD1):c.1559G>A (p.Arg520Lys)
NM_000546.6(TP53):c.322G>C (p.Gly108Arg) rs587782461
NM_001040108.2(MLH3):c.4232A>T (p.Gln1411Leu)
NM_001142556.2(HMMR):c.1360G>A (p.Glu454Lys)
NM_003579.4(RAD54L):c.1298del (p.Pro433fs)
NM_003579.4(RAD54L):c.1559C>T (p.Ser520Leu)
NM_003579.4(RAD54L):c.2209C>T (p.Gln737Ter)
NM_004360.5(CDH1):c.2047G>A (p.Val683Ile)
NM_007194.4(CHEK2):c.275C>G (p.Pro92Arg) rs779269031
NM_024675.4(PALB2):c.1779T>G (p.His593Gln)
NM_024675.4(PALB2):c.2230G>A (p.Glu744Lys) rs62625278
NM_024675.4(PALB2):c.2488del (p.Glu830fs) rs876658813
NM_032043.3(BRIP1):c.2735C>A (p.Thr912Asn) rs571949350
NM_032043.3(BRIP1):c.3528_3529insTTT (p.Ile1176_Lys1177insPhe)
NM_032043.3(BRIP1):c.589T>C (p.Ser197Pro) rs530897769
NM_032043.3(BRIP1):c.661A>C (p.Thr221Pro) rs777618772
NM_058216.3(RAD51C):c.619C>T (p.His207Tyr)

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