ClinVar Miner

List of variants in gene PYGM reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.1518+171A>T rs565688 0.91683
NM_005609.4(PYGM):c.528+74C>A rs489192 0.80888
NM_005609.4(PYGM):c.999+99T>C rs625172 0.76387
NM_005609.4(PYGM):c.1403+49C>A rs2959652 0.73328
NM_005609.4(PYGM):c.660+35G>A rs589691 0.68983
NM_005609.4(PYGM):c.529-82G>A rs490980 0.68643
NM_005609.4(PYGM):c.243+48A>G rs477549 0.20640
NM_005609.3(PYGM):c.-381T>C rs483962 0.20383
NM_005609.4(PYGM):c.1969+293A>G rs506354 0.13976
NM_005609.4(PYGM):c.1969+286G>C rs592546 0.13973
NM_005609.4(PYGM):c.1969+272T>C rs592521 0.13373
NM_005609.4(PYGM):c.1969+277G>A rs2071320 0.13369
NM_005609.4(PYGM):c.1969+280A>G rs592532 0.13366
NM_005609.4(PYGM):c.2313-47T>C rs569602 0.10954
NM_005609.4(PYGM):c.1519-279G>C rs7126110 0.10682
NM_005609.4(PYGM):c.1827+7A>G rs532747 0.10554
NM_005609.4(PYGM):c.661-464G>T rs547066 0.09765
NM_005609.4(PYGM):c.1768+51C>T rs686171 0.08974
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) rs11231865 0.03355
NM_005609.4(PYGM):c.425-22C>T rs61884454 0.02517
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) rs71581787 0.01778
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772 0.01143
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00657
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.660G>A (p.Gln220=) rs142234258 0.00186
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186 0.00175
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672 0.00157
NM_005609.4(PYGM):c.424+17G>A rs202244109 0.00140
NM_005609.4(PYGM):c.2109G>A (p.Glu703=) rs200537357 0.00116
NM_005609.4(PYGM):c.999+20C>T rs201711087 0.00102
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242 0.00060
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333 0.00058
NM_005609.4(PYGM):c.1692C>T (p.Phe564=) rs116812032 0.00041
NM_005609.4(PYGM):c.1527G>T (p.Gly509=) rs114730784 0.00036
NM_005609.4(PYGM):c.1925G>A (p.Arg642His) rs150098198 0.00035
NM_005609.4(PYGM):c.-76A>G rs139467558 0.00030
NM_005609.4(PYGM):c.1519-12G>A rs373078258 0.00028
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525 0.00017
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp) rs190548494 0.00016
NM_005609.4(PYGM):c.1215C>T (p.Tyr405=) rs371264447 0.00015
NM_005609.4(PYGM):c.606C>T (p.His202=) rs79860859 0.00013
NM_005609.4(PYGM):c.1191G>A (p.Leu397=) rs746939954 0.00001
NM_005609.4(PYGM):c.1240-16G>A rs573898801 0.00001
NM_005609.4(PYGM):c.1000-15del rs2496660155
NM_005609.4(PYGM):c.1093-10del rs1304298343
NM_005609.4(PYGM):c.1093-13dup rs1304298343
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.1969+266_1969+267insAC rs58190568
NM_005609.4(PYGM):c.1970-17dup rs1256951903
NM_005609.4(PYGM):c.661-5C>G rs75633423
NM_005609.4(PYGM):c.661-5del rs768761419
NM_005609.4(PYGM):c.855+13del rs1470706658

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.