List of variants in gene BRIP1 reported as pathogenic for Hereditary breast ovarian cancer syndrome

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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: 18

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HGVS	dbSNP	gnomAD frequency
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)	rs587781321	0.00006
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)	rs149364097	0.00004
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter)	rs730881633	0.00001
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)	rs587780226	0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)	rs587782410	0.00001
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs)	rs587780224
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)	rs587781292
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)	rs786202760
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter)	rs775537066
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)	rs1257401983
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs)	rs730881649
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)	rs574552037
NM_032043.3(BRIP1):c.2510del (p.Asn837fs)	rs2144187480
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)	rs771028677
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)	rs878855151
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)	rs786203717
NM_032043.3(BRIP1):c.886G>T (p.Glu296Ter)	rs876660125
NM_032043.3(BRIP1):c.890del (p.Lys297fs)	rs786202610

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