List of variants reported as pathogenic for breast disorder by Counsyl

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Total variants: 37

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HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	rs555607708	0.00181
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)	rs587781269	0.00003
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)	rs587776416	0.00002
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)	rs180177110	0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)	rs180177132	0.00002
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs)	rs180177135	0.00002
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter)	rs587781707	0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)	rs180177100	0.00001
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)	rs180177103	0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)	rs180177112	0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)	rs118203998	0.00001
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)	rs587782005	0.00001
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter)	rs180177091	0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs)	rs515726126	0.00001
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)	rs750413473
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)	rs587780174
NM_007194.4(CHEK2):c.277del (p.Trp93fs)	rs786203458
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)	rs536907995
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs)	rs587776410
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs)	rs515726060
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs)	rs180177099
NM_024675.4(PALB2):c.1059del (p.Lys353fs)	rs730881872
NM_024675.4(PALB2):c.1317del (p.Phe440fs)	rs515726067
NM_024675.4(PALB2):c.1479del (p.Thr494fs)	rs515726071
NM_024675.4(PALB2):c.1592del (p.Leu531fs)	rs180177102
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)	rs180177143
NM_024675.4(PALB2):c.2120del (p.Pro707fs)	rs587780210
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)	rs180177111
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs)	rs180177126
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)	rs118203999
NM_024675.4(PALB2):c.3048del (p.Phe1016fs)	rs515726104
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)	rs180177133
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)	rs587776426
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)	rs118203998
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter)	rs587776407
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	rs515726123
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)	rs180177092

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