ClinVar Miner

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

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Gene type:
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Total variants: 45
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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.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_002863.5(PYGL):c.424+6T>A rs146741789 0.00346
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.*11del rs3216001
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.1828-2del rs11356035
NM_002863.5(PYGL):c.1869G>C (p.Leu623=)
NM_002863.5(PYGL):c.1964_1969+4delinsGAAAAA
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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