ClinVar Miner

List of variants in gene PYCR1 reported as uncertain significance for amino acid metabolism disease

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp) rs147653673 0.00097
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile) rs199585131 0.00024
NM_006907.4(PYCR1):c.790C>T (p.Arg264Cys) rs770539885 0.00001
NM_006907.4(PYCR1):c.346A>G (p.Arg116Gly) rs2041142934
NM_006907.4(PYCR1):c.559G>A (p.Ala187Thr) rs763349891

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