List of variants reported as likely pathogenic for Familial cancer of breast by Genetics and Molecular Pathology, SA Pathology

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	rs28909982	0.00009
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)	rs371418985	0.00001
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)	rs754562056
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)	rs375783941
NM_000059.4(BRCA2):c.8487+3A>G	rs81002806
NM_004360.5(CDH1):c.1215del (p.Asn405fs)	rs2152133449
NM_004360.5(CDH1):c.754dup (p.Val252fs)	rs2152131075
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter)	rs1248967885
NM_024675.4(PALB2):c.2514+1G>C	rs886039729
NM_024675.4(PALB2):c.3418del (p.Trp1140fs)	rs2142254289
NM_032043.3(BRIP1):c.1072dup (p.Leu358fs)	rs2145334953
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)	rs771028677

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