List of variants in gene combination BRCA1, LOC126862571 reported as pathogenic for Familial cancer of breast

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.3485del (p.Asp1162fs)	rs80357509	0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)	rs62625308	0.00001
NM_007294.3(BRCA1):c.548-?_5193+?del
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)	rs80357635
NM_007294.4(BRCA1):c.3243_3288dup (p.Ser1097delinsCysTyrAlaTer)	rs1555588016
NM_007294.4(BRCA1):c.3333del (p.Glu1112fs)	rs80357966
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs)	rs397509067
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)	rs80357609
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter)	rs28897686
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)	rs80357868
NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter)	rs80357208
NM_007294.4(BRCA1):c.3823dup (p.Ile1275fs)	rs2154283296
NM_007294.4(BRCA1):c.3982del (p.Ser1328fs)	rs2053490037
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)	rs80357711
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs)	rs80357727
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)	rs80357508

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