ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease type X by Illumina Laboratory Services, Illumina

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000290.4(PGAM2):c.726C>T (p.Ala242=) rs142209394 0.00118
NM_000290.4(PGAM2):c.459C>T (p.Cys153=) rs143809043 0.00089
NM_001014436.3(DBNL):c.*4668T>G rs528717273 0.00038
NM_000290.4(PGAM2):c.501G>T (p.Trp167Cys) rs150235677 0.00034
NM_000290.4(PGAM2):c.119G>A (p.Arg40Gln) rs140545494 0.00032
NM_000290.4(PGAM2):c.288A>G (p.Thr96=) rs139561812 0.00023
NM_001014436.3(DBNL):c.*1813T>C rs374509693 0.00016
NM_001014436.3(DBNL):c.*4645dup rs554686318 0.00016
NM_000290.4(PGAM2):c.480T>C (p.Ile160=) rs780650903 0.00011
NM_000290.4(PGAM2):c.115A>C (p.Lys39Gln) rs147126221 0.00006
NM_000290.4(PGAM2):c.148A>C (p.Met50Leu) rs151308911 0.00006
NM_000290.4(PGAM2):c.571C>T (p.Arg191Trp) rs368258088 0.00004
NM_000290.4(PGAM2):c.252T>C (p.Thr84=) rs755125202 0.00002
NM_000290.4(PGAM2):c.232T>C (p.Trp78Arg) rs1191913196
NM_000290.4(PGAM2):c.244G>T (p.Val82Leu) rs528467394
NM_000290.4(PGAM2):c.426C>T (p.Tyr142=) rs376134077
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile) rs199869174
NM_000290.4(PGAM2):c.511A>C (p.Ile171Leu) rs372452057

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