List of variants in gene PYGM reported as benign for Glycogen storage disease, type V

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 47

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HGVS	dbSNP	gnomAD frequency
NM_005609.4(PYGM):c.528+74C>A	rs489192	0.81198
NM_005609.4(PYGM):c.999+99T>C	rs625172	0.76284
NM_005609.4(PYGM):c.1403+49C>A	rs2959652	0.73109
NM_005609.4(PYGM):c.660+35G>A	rs589691	0.68983
NM_005609.4(PYGM):c.529-82G>A	rs490980	0.67990
NM_005609.4(PYGM):c.243+48A>G	rs477549	0.20413
NM_005609.3(PYGM):c.-381T>C	rs483962	0.20383
NM_005609.4(PYGM):c.2313-47T>C	rs569602	0.10954
NM_005609.4(PYGM):c.1827+7A>G	rs532747	0.10554
NM_005609.4(PYGM):c.1768+51C>T	rs686171	0.08974
NM_005609.4(PYGM):c.1494C>T (p.Pro498=)	rs11231865	0.03592
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met)	rs71581787	0.01778
NM_005609.4(PYGM):c.1569C>G (p.Leu523=)	rs114138772	0.01217
NM_005609.4(PYGM):c.1092+6dup	rs368602234	0.00700
NM_005609.4(PYGM):c.645G>A (p.Lys215=)	rs116315896	0.00530
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.924C>T (p.Ile308=)	rs139726186	0.00175
NM_005609.4(PYGM):c.660G>A (p.Gln220=)	rs142234258	0.00161
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)	rs142054672	0.00157
NM_005609.4(PYGM):c.424+17G>A	rs202244109	0.00145
NM_005609.4(PYGM):c.2109G>A (p.Glu703=)	rs200537357	0.00120
NM_005609.4(PYGM):c.999+20C>T	rs201711087	0.00106
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val)	rs61736659	0.00065
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)	rs141959242	0.00062
NM_005609.4(PYGM):c.182G>A (p.Arg61His)	rs145514333	0.00058
NM_005609.4(PYGM):c.1925G>A (p.Arg642His)	rs150098198	0.00035
NM_005609.4(PYGM):c.1519-12G>A	rs373078258	0.00031
NM_005609.4(PYGM):c.1527G>T (p.Gly509=)	rs114730784	0.00023
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)	rs190548494	0.00016
NM_005609.4(PYGM):c.-76A>G	rs139467558	0.00015
NM_005609.4(PYGM):c.606C>T (p.His202=)	rs79860859	0.00010
NM_005609.4(PYGM):c.1215C>T (p.Tyr405=)	rs371264447	0.00001
NM_005609.4(PYGM):c.1240-16G>A	rs573898801	0.00001
NM_005609.4(PYGM):c.1000-15del
NM_005609.4(PYGM):c.1093-10del
NM_005609.4(PYGM):c.1093-13dup	rs1304298343
NM_005609.4(PYGM):c.1191G>A (p.Leu397=)
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly)	rs11231866
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu)	rs568496266
NM_005609.4(PYGM):c.1621-19del	rs571976523
NM_005609.4(PYGM):c.1970-17dup
NM_005609.4(PYGM):c.2382C>T (p.Asn794=)	rs540487525
NM_005609.4(PYGM):c.661-5C>G	rs75633423
NM_005609.4(PYGM):c.661-5del	rs768761419
NM_005609.4(PYGM):c.855+13del

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