List of variants reported as pathogenic for Breast-ovarian cancer, familial, susceptibility to, 1 by Institute of Immunology and Genetics Kaiserslautern

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter)	rs587782070	0.00002
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)	rs876658716	0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)	rs180177100	0.00001
NM_000059.4(BRCA2):c.1850C>G (p.Ser617Ter)	rs397507278
NM_000059.4(BRCA2):c.2653_2656del (p.Asp885fs)	rs80359340
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs)	rs80359377
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)	rs80359605
NM_000251.3(MSH2):c.2012A>T (p.Asn671Ile)
NM_007194.4(CHEK2):c.846+4_846+7del	rs764884641
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	rs80357906

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