ClinVar Miner

List of variants in gene PYGM reported as benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.1518+171A>T rs565688 0.91683
NM_005609.4(PYGM):c.528+74C>A rs489192 0.81198
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.1969+293A>G rs506354 0.13376
NM_005609.4(PYGM):c.1969+272T>C rs592521 0.13373
NM_005609.4(PYGM):c.1969+286G>C rs592546 0.13371
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 0.03592
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 0.01217
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.182G>A (p.Arg61His) rs145514333 0.00058
NM_005609.4(PYGM):c.1527G>T (p.Gly509=) rs114730784 0.00023
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.4(PYGM):c.1969+266_1969+267insAC rs58190568
NM_005609.4(PYGM):c.661-5C>G rs75633423

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