List of variants reported as likely pathogenic by Institute of Human Genetics, Medical University Innsbruck

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)	rs80359013	0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	rs41293459	0.00001
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)	rs80359100
NM_000500.9(CYP21A2):c.1450dup (p.Arg484fs)	rs779791105
NM_000500.9(CYP21A2):c.559T>G (p.Leu187Val)	rs1582305275
NM_000500.9(CYP21A2):c.754G>A (p.Gly252Ser)	rs182942340
NM_000500.9(CYP21A2):c.782T>C (p.Met261Thr)	rs1582307951
NM_000500.9(CYP21A2):c.782T>G (p.Met261Arg)	rs1582307951
NM_000527.4:c.(313+1_314-1)_(1186+1_1187-1)del
NM_000527.5(LDLR):c.1706-2A>G	rs878854027
NM_000527.5(LDLR):c.1846-11T>A	rs2147264751
NM_000527.5(LDLR):c.1965_1966delinsG (p.Phe655fs)	rs2147265360
NM_001320.7(CSNK2B):c.583_586dup (p.Ala196fs)	rs2151189840

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