ClinVar Miner

List of variants in gene PYGL reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_002863.5(PYGL):c.153C>T (p.Asp51=) rs77316189 0.07133
NM_002863.5(PYGL):c.93T>C (p.Ser31=) rs17123244 0.04608
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873 0.01205
NM_002863.5(PYGL):c.1093-6C>A rs147211684 0.00613
NM_002863.5(PYGL):c.2112T>C (p.Ala704=) rs35110875 0.00531
NM_002863.5(PYGL):c.176C>T (p.Thr59Met) rs150483902 0.00507
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.1758G>A (p.Thr586=) rs755485474 0.00006
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter) rs150547274 0.00005
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) rs749922511 0.00001
NM_002863.5(PYGL):c.*11del rs3216001
NM_002863.5(PYGL):c.1483C>T (p.Leu495Phe) rs371462026
NM_002863.5(PYGL):c.1648dup (p.Leu550fs) rs529502292
NM_002863.5(PYGL):c.1828-2del rs11356035
NM_002863.5(PYGL):c.345+10del rs1474966585
NM_002863.5(PYGL):c.38A>C (p.Gln13Pro) rs113993972
NM_002863.5(PYGL):c.848A>T (p.Asn283Ile) rs775341500

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