ClinVar Miner

List of variants in gene BRF1 studied for cerebellar-facial-dental syndrome

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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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