ClinVar Miner

List of variants studied for focal dystonia by Baylor Genetics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000718.4(CACNA1B):c.2636C>A (p.Pro879His) rs1036442743 0.00001
NM_000718.4(CACNA1B):c.3862G>A (p.Val1288Ile) rs1959395759
NM_004606.5(TAF1):c.1474A>T (p.Met492Leu) rs2033909793
NM_004606.5(TAF1):c.1632G>T (p.Gly544=)

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