List of variants in gene BRF1 studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

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_001519.4(BRF1):c.549G>A (p.Pro183=)	rs144658695	0.00221
NM_001519.4(BRF1):c.1693G>T (p.Ala565Ser)	rs188142316	0.00004
NM_001519.4(BRF1):c.667C>T (p.Arg223Trp)	rs370270828	0.00003
NM_001519.4(BRF1):c.776C>T (p.Thr259Met)	rs373957300	0.00003
NM_001519.4(BRF1):c.677C>T (p.Ser226Leu)	rs606231416	0.00001
NM_001519.4(BRF1):c.875C>A (p.Pro292His)	rs606231450	0.00001
NM_001519.4(BRF1):c.1204G>A (p.Gly402Ser)
NM_001519.4(BRF1):c.1207G>A (p.Gly403Ser)
NM_001519.4(BRF1):c.1592AGA[2] (p.Lys533del)	rs868673013
NM_001519.4(BRF1):c.1714C>G (p.Arg572Gly)	rs770411283
NM_001519.4(BRF1):c.1947GGA[1] (p.Glu650del)
NM_001519.4(BRF1):c.779T>C (p.Leu260Pro)	rs1595325674
NM_001519.4(BRF1):c.793_794delinsCATTTA (p.Thr265fs)	rs2141566255

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