ClinVar Miner

List of variants in gene PYGL reported as benign by Preventiongenetics, part of Exact Sciences

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_002863.5(PYGL):c.2016C>T (p.Thr672=) rs15669 0.21064
NM_002863.5(PYGL):c.*7G>C rs1042266 0.17763
NM_002863.5(PYGL):c.1020C>T (p.Asp340=) rs2075643 0.16448
NM_002863.5(PYGL):c.664G>A (p.Val222Ile) rs946616 0.09756
NM_002863.5(PYGL):c.153C>T (p.Asp51=) rs77316189 0.07133
NM_002863.5(PYGL):c.529-22G>A rs41317304 0.06174
NM_002863.5(PYGL):c.93T>C (p.Ser31=) rs17123244 0.04608
NM_002863.5(PYGL):c.2380-41G>A rs2275466 0.03044
NM_002863.5(PYGL):c.244-34G>A rs17123214 0.02271
NM_002863.5(PYGL):c.772+16G>T rs17123173 0.02096
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135 0.01732
NM_002863.5(PYGL):c.1621-6T>C rs74539788 0.01217
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873 0.01205
NM_002863.5(PYGL):c.962G>A (p.Arg321His) rs116465563 0.00878
NM_002863.5(PYGL):c.1093-6C>A rs147211684 0.00613
NM_002863.5(PYGL):c.176C>T (p.Thr59Met) rs150483902 0.00507
NM_002863.5(PYGL):c.424+6T>A rs146741789 0.00346
NM_002863.5(PYGL):c.*11del rs3216001
NM_002863.5(PYGL):c.1828-2del rs11356035

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