List of variants in gene BRIP1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)	rs45589637	0.00041
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)	rs28903098	0.00024
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)	rs141055990	0.00017
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)	rs201869624	0.00016
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)	rs28997573	0.00011
NM_032043.3(BRIP1):c.3079G>A (p.Glu1027Lys)	rs371185409	0.00007
NM_032043.3(BRIP1):c.1629-3T>C	rs587780828	0.00006
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)	rs587780235	0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)	rs45437094	0.00006
NM_032043.3(BRIP1):c.2189G>A (p.Gly730Glu)	rs748616469	0.00004
NM_032043.3(BRIP1):c.1499A>G (p.Lys500Arg)	rs746329838	0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)	rs571108955	0.00003
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)	rs4988356	0.00002
NM_032043.3(BRIP1):c.1375A>G (p.Arg459Gly)	rs752052351	0.00001
NM_032043.3(BRIP1):c.1473+6A>G	rs587780827	0.00001
NM_032043.3(BRIP1):c.1474-3T>C	rs552752779	0.00001
NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu)	rs587782356	0.00001
NM_032043.3(BRIP1):c.2867C>T (p.Ser956Leu)	rs761639530	0.00001
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)	rs747907706	0.00001
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)	rs45603843	0.00001
NM_032043.3(BRIP1):c.627+5G>A	rs745727200	0.00001
NM_032043.3(BRIP1):c.2813_2815A[5]GAAA[1]	rs1555571892
NM_032043.3(BRIP1):c.1141-9A>G	rs1555607258
NM_032043.3(BRIP1):c.1271G>A (p.Ser424Asn)	rs1354610577
NM_032043.3(BRIP1):c.1850T>C (p.Leu617Ser)	rs1064794095
NM_032043.3(BRIP1):c.2232C>G (p.Asp744Glu)	rs374362388
NM_032043.3(BRIP1):c.2447G>T (p.Trp816Leu)	rs786204250
NM_032043.3(BRIP1):c.2684C>A (p.Ser895Tyr)	rs1555573437
NM_032043.3(BRIP1):c.2906-61A>G	rs797045415
NM_032043.3(BRIP1):c.611_613del (p.Ser204del)	rs1060501731
NM_032043.3(BRIP1):c.774G>A (p.Gln258=)	rs1198536492

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