List of variants in gene PYGM reported as uncertain significance by GeneDx

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: 48

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HGVS	dbSNP	gnomAD frequency
NM_005609.4(PYGM):c.660G>A (p.Gln220=)	rs142234258	0.00161
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys)	rs116180923	0.00160
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)	rs142054672	0.00157
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser)	rs150622626	0.00077
NM_005609.4(PYGM):c.160T>G (p.Phe54Val)	rs148839812	0.00046
NM_005609.4(PYGM):c.1692C>T (p.Phe564=)	rs116812032	0.00042
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser)	rs145881639	0.00039
NM_005609.4(PYGM):c.1925G>A (p.Arg642His)	rs150098198	0.00035
NM_005609.4(PYGM):c.761A>T (p.Asn254Ile)	rs149067043	0.00034
NM_005609.4(PYGM):c.1885G>T (p.Asp629Tyr)	rs137986928	0.00032
NM_005609.4(PYGM):c.208C>T (p.Arg70Cys)	rs765844107	0.00018
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr)	rs200688234	0.00016
NM_005609.4(PYGM):c.2447G>A (p.Arg816His)	rs139230055	0.00010
NM_005609.4(PYGM):c.100C>T (p.Arg34Trp)	rs531748591	0.00009
NM_005609.4(PYGM):c.1403+5G>A	rs373040789	0.00009
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser)	rs115690781	0.00009
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp)	rs558267822	0.00009
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser)	rs201042910	0.00008
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr)	rs749358752	0.00007
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg)	rs750032282	0.00006
NM_005609.4(PYGM):c.1409A>G (p.Lys470Arg)	rs754940511	0.00005
NM_005609.4(PYGM):c.1882G>A (p.Gly628Arg)	rs201591132	0.00005
NM_005609.4(PYGM):c.1507G>A (p.Val503Ile)	rs149932883	0.00004
NM_005609.4(PYGM):c.1492C>T (p.Pro498Ser)	rs200101718	0.00003
NM_005609.4(PYGM):c.833G>A (p.Arg278His)	rs775556109	0.00003
NM_005609.4(PYGM):c.1918C>T (p.Arg640Cys)	rs771016457	0.00002
NM_005609.4(PYGM):c.331G>A (p.Glu111Lys)	rs779392056	0.00002
NM_005609.4(PYGM):c.818C>T (p.Ala273Val)	rs768576604	0.00002
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro)	rs780375860	0.00002
NM_005609.4(PYGM):c.1598G>A (p.Arg533Gln)	rs1194180857	0.00001
NM_005609.4(PYGM):c.1620+3G>T	rs548943016	0.00001
NM_005609.4(PYGM):c.1768C>T (p.Arg590Cys)	rs368545367	0.00001
NM_005609.4(PYGM):c.2389G>C (p.Glu797Gln)	rs577589879	0.00001
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp)	rs376581557	0.00001
NM_005609.4(PYGM):c.618T>A (p.His206Gln)	rs371343340	0.00001
NM_005609.4(PYGM):c.8G>A (p.Arg3Gln)	rs374812974	0.00001
NM_005609.4(PYGM):c.1000G>A (p.Val334Met)
NM_005609.4(PYGM):c.1076G>A (p.Arg359Gln)
NM_005609.4(PYGM):c.1117T>C (p.Cys373Arg)	rs985454554
NM_005609.4(PYGM):c.1433A>G (p.His478Arg)	rs758131128
NM_005609.4(PYGM):c.1525G>A (p.Gly509Arg)	rs755309894
NM_005609.4(PYGM):c.161T>A (p.Phe54Tyr)
NM_005609.4(PYGM):c.1834C>G (p.Pro612Ala)	rs1419658107
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu)	rs119103256
NM_005609.4(PYGM):c.2165T>G (p.Leu722Arg)	rs1131691265
NM_005609.4(PYGM):c.2411G>C (p.Arg804Pro)	rs372295369
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg)	rs141265458
NM_005609.4(PYGM):c.562A>G (p.Asn188Asp)

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