ClinVar Miner

List of variants in gene GCH1 reported by Revvity Omics, Revvity

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)	rs41298442	0.00037
NM_000161.3(GCH1):c.328C>G (p.Gln110Glu)	rs748944982	0.00007
NM_000161.3(GCH1):c.551G>A (p.Arg184His)	rs104894445
NM_000161.3(GCH1):c.626+1G>A	rs1555358507

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