List of variants in gene GCH1 reported as uncertain significance by Athena Diagnostics Inc

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000161.3(GCH1):c.*20C>T	rs143111433	0.00049
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu)	rs56127440	0.00035
NM_000161.3(GCH1):c.260A>C (p.Gln87Pro)	rs1595031190
NM_000161.3(GCH1):c.295G>T (p.Ala99Ser)	rs1566687219
NM_000161.3(GCH1):c.669C>A (p.Ser223Arg)	rs1594968409
NM_000161.3(GCH1):c.747G>C (p.Arg249Ser)	rs104894442
NM_000161.3(GCH1):c.748A>T (p.Ser250Cys)	rs748132792

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