ClinVar Miner

List of variants in gene PYGL reported as uncertain significance by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys) rs34096980 0.00245
NM_002863.5(PYGL):c.1981A>G (p.Thr661Ala) rs142483613 0.00072
NM_002863.5(PYGL):c.2540A>T (p.Asn847Ile) rs147863207 0.00011
NM_002863.5(PYGL):c.645G>C (p.Lys215Asn) rs1466111181 0.00002
NM_002863.5(PYGL):c.481C>T (p.Arg161Trp) rs749811385 0.00001
NM_002863.5(PYGL):c.641C>T (p.Thr214Ile)
NM_002863.5(PYGL):c.806A>G (p.Asp269Gly) rs557868018

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