ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys) rs34096980 0.00245
NM_002863.5(PYGL):c.2177+34T>C rs137880110 0.00132
NM_002863.5(PYGL):c.603G>T (p.Val201=) rs138364932 0.00108
NM_002863.5(PYGL):c.30G>A (p.Lys10=) rs140912135 0.00046
NM_002863.5(PYGL):c.1274G>A (p.Arg425His) rs2228499 0.00024
NM_002863.5(PYGL):c.2380-9T>C rs368714229 0.00020
NM_002863.5(PYGL):c.1629G>A (p.Lys543=) rs774872592 0.00012
NM_002863.5(PYGL):c.1119C>T (p.Phe373=) rs151022264 0.00009
NM_002863.5(PYGL):c.1617G>A (p.Lys539=) rs17721570 0.00006
NM_002863.5(PYGL):c.1970-15T>A rs770476567 0.00001
NM_002863.5(PYGL):c.1093-3C>T
NM_002863.5(PYGL):c.1365C>T (p.Gly455=)
NM_002863.5(PYGL):c.1536T>C (p.Tyr512=) rs766354684
NM_002863.5(PYGL):c.1827+8G>A
NM_002863.5(PYGL):c.1828-21G>A rs75220125
NM_002863.5(PYGL):c.1869G>C (p.Leu623=)
NM_002863.5(PYGL):c.2178-33dup rs11414268
NM_002863.5(PYGL):c.2187A>G (p.Ala729=)
NM_002863.5(PYGL):c.390T>A (p.Ala130=)
NM_002863.5(PYGL):c.393A>G (p.Gly131=)
NM_002863.5(PYGL):c.414G>A (p.Gly138=)
NM_002863.5(PYGL):c.773-31T>C rs763237387
NM_002863.5(PYGL):c.825C>T (p.Asn275=)

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