ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease type X by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000290.4(PGAM2):c.415-3C>T rs201133395 0.00048
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.16C>G (p.Leu6Val) rs750344114 0.00012
NM_000290.4(PGAM2):c.194G>A (p.Arg65His) rs200420235 0.00010
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala) rs104894030 0.00007
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.256C>T (p.Arg86Cys) rs371509257 0.00006
NM_000290.4(PGAM2):c.515T>G (p.Val172Gly) rs370003298 0.00006
NM_000290.4(PGAM2):c.532G>A (p.Gly178Ser) rs772187619 0.00006
NM_000290.4(PGAM2):c.596-7G>A rs372222997 0.00006
NM_000290.4(PGAM2):c.755C>A (p.Ala252Asp) rs752958758 0.00006
NM_000290.4(PGAM2):c.719G>A (p.Arg240Gln) rs369482159 0.00003
NM_000290.4(PGAM2):c.365C>T (p.Pro122Leu) rs147273213 0.00002
NM_000290.4(PGAM2):c.37G>A (p.Glu13Lys) rs1026868358 0.00002
NM_000290.4(PGAM2):c.143C>T (p.Ala48Val) rs1308236739 0.00001
NM_000290.4(PGAM2):c.19G>A (p.Val7Met) rs774293728 0.00001
NM_000290.4(PGAM2):c.268C>T (p.Arg90Trp) rs104894034 0.00001
NM_000290.4(PGAM2):c.374C>T (p.Pro125Leu) rs1385458139 0.00001
NM_000290.4(PGAM2):c.545T>C (p.Leu182Pro) rs749757183 0.00001
NM_000290.4(PGAM2):c.611C>T (p.Ala204Val) rs747760221 0.00001
NC_000007.13:g.(?_44102363)_(44105128_?)dup
NM_000290.4(PGAM2):c.106G>A (p.Glu36Lys)
NM_000290.4(PGAM2):c.110A>G (p.Glu37Gly)
NM_000290.4(PGAM2):c.125C>T (p.Ala42Val)
NM_000290.4(PGAM2):c.136A>G (p.Lys46Glu)
NM_000290.4(PGAM2):c.13C>T (p.Arg5Cys)
NM_000290.4(PGAM2):c.14G>A (p.Arg5His)
NM_000290.4(PGAM2):c.155T>C (p.Phe52Ser)
NM_000290.4(PGAM2):c.161T>C (p.Ile54Thr)
NM_000290.4(PGAM2):c.170C>T (p.Thr57Met)
NM_000290.4(PGAM2):c.193C>T (p.Arg65Cys)
NM_000290.4(PGAM2):c.221C>T (p.Thr74Met)
NM_000290.4(PGAM2):c.244G>A (p.Val82Met) rs528467394
NM_000290.4(PGAM2):c.244G>T (p.Val82Leu) rs528467394
NM_000290.4(PGAM2):c.247C>T (p.Arg83Cys)
NM_000290.4(PGAM2):c.251C>A (p.Thr84Asn)
NM_000290.4(PGAM2):c.251C>G (p.Thr84Ser)
NM_000290.4(PGAM2):c.257G>A (p.Arg86His)
NM_000290.4(PGAM2):c.28C>T (p.Arg10Trp)
NM_000290.4(PGAM2):c.29G>A (p.Arg10Gln)
NM_000290.4(PGAM2):c.29G>C (p.Arg10Pro)
NM_000290.4(PGAM2):c.350G>A (p.Arg117His)
NM_000290.4(PGAM2):c.359A>G (p.Asp120Gly)
NM_000290.4(PGAM2):c.35_37del (p.Gly12del) rs2096158222
NM_000290.4(PGAM2):c.368C>G (p.Pro123Arg) rs372435680
NM_000290.4(PGAM2):c.382G>A (p.Glu128Lys)
NM_000290.4(PGAM2):c.406A>G (p.Ile136Val)
NM_000290.4(PGAM2):c.414+6C>T rs2128796381
NM_000290.4(PGAM2):c.419G>A (p.Arg140His)
NM_000290.4(PGAM2):c.422G>A (p.Arg141Gln)
NM_000290.4(PGAM2):c.431G>A (p.Gly144Asp)
NM_000290.4(PGAM2):c.442G>C (p.Gly148Arg)
NM_000290.4(PGAM2):c.460G>A (p.Glu154Lys)
NM_000290.4(PGAM2):c.485G>A (p.Arg162Gln)
NM_000290.4(PGAM2):c.485G>C (p.Arg162Pro)
NM_000290.4(PGAM2):c.501G>C (p.Trp167Cys)
NM_000290.4(PGAM2):c.505G>A (p.Glu169Lys)
NM_000290.4(PGAM2):c.511A>C (p.Ile171Leu) rs372452057
NM_000290.4(PGAM2):c.51C>A (p.Asn17Lys)
NM_000290.4(PGAM2):c.595+3G>T
NM_000290.4(PGAM2):c.595G>T (p.Gly199Trp)
NM_000290.4(PGAM2):c.59A>C (p.Asn20Thr)
NM_000290.4(PGAM2):c.62G>A (p.Arg21His) rs1392611950
NM_000290.4(PGAM2):c.673A>C (p.Lys225Gln)
NM_000290.4(PGAM2):c.70G>A (p.Gly24Ser)
NM_000290.4(PGAM2):c.713C>T (p.Thr238Met)
NM_000290.4(PGAM2):c.93T>G (p.Ser31Arg)

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