List of variants in gene BRIP1 reported by Genome Diagnostics Laboratory, University Medical Center Utrecht

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=)	rs4986765	0.74166
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro)	rs4986764	0.61453
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=)	rs4986763	0.60694
NM_032043.3(BRIP1):c.2905+83T>A	rs4988357	0.33913
NM_032043.3(BRIP1):c.508-31C>G	rs4988344	0.15259
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)	rs4988346	0.00305
NM_032043.3(BRIP1):c.2097+7G>A	rs4988352	0.00271
NM_032043.3(BRIP1):c.918+15T>A	rs117820198	0.00078
NM_032043.3(BRIP1):c.380-17T>A	rs200050729	0.00034
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)	rs28903098	0.00024
NM_032043.3(BRIP1):c.1236del (p.Val413fs)	rs863224525
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)	rs587778134
NM_032043.3(BRIP1):c.380-28G>A	rs4988343

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