ClinVar Miner

List of variants in gene PYGM reported by PreventionGenetics

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Total variants: 20
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HGVS dbSNP
NM_005609.4(PYGM):c.1092+6dup rs368602234
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) rs71581787
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.4(PYGM):c.1403+49C>A rs2959652
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) rs11231865
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772
NM_005609.4(PYGM):c.15G>C (p.Leu5=) rs886038565
NM_005609.4(PYGM):c.1621-19del rs571976523
NM_005609.4(PYGM):c.1827+7A>G rs532747
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) rs143217651
NM_005609.4(PYGM):c.2313-47T>C rs569602
NM_005609.4(PYGM):c.243+48A>G rs477549
NM_005609.4(PYGM):c.425-22C>T rs61884454
NM_005609.4(PYGM):c.516C>T (p.Ser172=) rs147402432
NM_005609.4(PYGM):c.540C>T (p.Ala180=) rs148731983
NM_005609.4(PYGM):c.612C>T (p.Tyr204=) rs200467937
NM_005609.4(PYGM):c.660+35G>A rs589691
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258
NM_005609.4(PYGM):c.661-5C>G rs75633423
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186

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