ClinVar Miner

List of variants studied for cerebellar-facial-dental syndrome by 3billion

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
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)

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