ClinVar Miner

List of variants in gene PYGM reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser) rs77656150 0.00209
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918 0.00189
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186 0.00175
NM_005609.4(PYGM):c.516C>T (p.Ser172=) rs147402432 0.00087
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011 0.00081
NM_005609.4(PYGM):c.2112G>A (p.Ala704=) rs61737361 0.00068
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) rs143217651 0.00026
NM_005609.4(PYGM):c.612C>T (p.Tyr204=) rs200467937 0.00025
NM_005609.4(PYGM):c.951C>T (p.Phe317=) rs71581789 0.00016
NM_005609.4(PYGM):c.981C>T (p.Phe327=) rs146289842 0.00016
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp) rs200058475 0.00007
NM_005609.4(PYGM):c.1383C>T (p.Ser461=) rs775978754 0.00001
NM_005609.4(PYGM):c.198G>C (p.Gly66=) rs776064700 0.00001
NM_005609.4(PYGM):c.723C>T (p.Thr241=) rs772848708 0.00001
NM_005609.4(PYGM):c.975G>A (p.Thr325=) rs747106887 0.00001
NM_005609.4(PYGM):c.459G>C (p.Leu153=) rs775811645

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