List of variants studied for Familial cancer of breast by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)	rs80357257	0.00024
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)	rs730881389	0.00001
NM_000051.4(ATM):c.147_148insG (p.Lys50fs)
NM_000051.4(ATM):c.496+334A>G
NM_000051.4(ATM):c.8400G>T (p.Gln2800His)	rs879253901
NM_000059.4(BRCA2):c.67+1G>A	rs81002796
NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter)	rs80359205
NM_000314.8(PTEN):c.959dup (p.Leu320fs)
NM_000465.4(BARD1):c.1569-1G>C	rs1574756672
NM_000546.6(TP53):c.1039G>A (p.Ala347Thr)	rs1597349147
NM_007294.4(BRCA1):c.1165del (p.Ser389fs)	rs80357985
NM_007294.4(BRCA1):c.4932_4933dup (p.Arg1645fs)	rs80357833
NM_007294.4(BRCA1):c.5417del (p.Pro1806fs)	rs80357558
NM_024675.4(PALB2):c.2032del (p.Leu678fs)	rs730881866
NM_024675.4(PALB2):c.293dup (p.Thr99fs)	rs1967057228
NM_024675.4(PALB2):c.3032A>T (p.Glu1011Val)	rs1597079845
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)	rs760551339

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