ClinVar Miner

List of variants studied for GTP cyclohydrolase I deficiency by Mendelics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440 0.00035
NM_000161.3(GCH1):c.26_27insTCT (p.Pro9_Ala10insLeu) rs1595031768
NM_000161.3(GCH1):c.305T>C (p.Met102Thr) rs2140127042
NM_000161.3(GCH1):c.510-1G>T rs1555358604
NM_000161.3(GCH1):c.601G>T (p.Gly201Ter) rs2140041673
NM_000161.3(GCH1):c.646C>T (p.Arg216Ter) rs41298440

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