List of variants reported as pathogenic for Familial cancer of breast by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	rs555607708	0.00181
NM_007194.4(CHEK2):c.444+1G>A	rs121908698	0.00009
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)	rs587779852	0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	rs587782652	0.00004
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)	rs587780021	0.00003
NM_000051.4(ATM):c.67C>T (p.Arg23Ter)	rs746235533	0.00002
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	rs587776551	0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)	rs139770721	0.00001
NM_000051.4(ATM):c.7630-2A>C	rs587779866	0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)	rs761494650	0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)	rs80356898	0.00001
NM_000051.4(ATM):c.1333del (p.Gln445fs)	rs1060501701
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)	rs587779817
NM_000051.4(ATM):c.2341C>T (p.Gln781Ter)	rs1555075781
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	rs587779834
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)	rs786204751
NM_000051.4(ATM):c.6082del (p.Gln2028fs)	rs1565499093
NM_000051.4(ATM):c.689del (p.Asn230fs)	rs1057518965
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)	rs587781672
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)	rs1555137973
NM_000465.4(BARD1):c.216-1G>T
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)	rs587783050
NM_004360.5(CDH1):c.1565+1G>A	rs587780113
NM_004360.5(CDH1):c.583C>T (p.Gln195Ter)	rs1960737851
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)	rs587780174
NM_007194.4(CHEK2):c.683+2T>C	rs781021132
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	rs80357906
NM_007294.4(BRCA1):c.676del (p.Cys226fs)	rs80357941
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter)	rs180177097
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)	rs786203714
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)	rs180177143
NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter)	rs1567217898
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	rs515726123
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)	rs760551339

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