ClinVar Miner

List of variants studied for Glycogen storage disease type X by Invitae

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Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_000290.4(PGAM2):c.324G>A (p.Gly108=) rs112828964 0.02943
NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser) rs61756062 0.02444
NM_000290.4(PGAM2):c.216C>T (p.Asp72=) rs111656877 0.01481
NM_000290.4(PGAM2):c.366G>A (p.Pro122=) rs143830182 0.00529
NM_000290.4(PGAM2):c.375G>A (p.Pro125=) rs145985559 0.00382
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779 0.00166
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr) rs150570281 0.00132
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.*4099G>A 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.290G>A (p.Gly97Asp) rs77938727 0.00026
NM_000290.4(PGAM2):c.288A>G (p.Thr96=) rs139561812 0.00023
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala) rs140230479 0.00022
NM_000290.4(PGAM2):c.531C>G (p.Ala177=) rs555158017 0.00015
NM_001014436.3(DBNL):c.*4113C>T rs370359405 0.00014
NM_000290.4(PGAM2):c.16C>G (p.Leu6Val) rs750344114 0.00012
NM_000290.4(PGAM2):c.480T>C (p.Ile160=) rs780650903 0.00011
NM_000290.4(PGAM2):c.194G>A (p.Arg65His) rs200420235 0.00010
NM_000290.4(PGAM2):c.264T>C (p.Asn88=) rs146272559 0.00007
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.36C>T (p.Gly12=) rs369660945 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.755C>A (p.Ala252Asp) rs752958758 0.00006
NM_001014436.3(DBNL):c.*2021C>T rs372222997 0.00006
NM_000290.4(PGAM2):c.20del (p.Val7fs) rs764567774 0.00005
NM_001014436.3(DBNL):c.*2017A>G rs367994618 0.00005
NM_000290.4(PGAM2):c.381C>T (p.Asp127=) rs530105632 0.00003
NM_000290.4(PGAM2):c.636G>A (p.Thr212=) rs755991460 0.00003
NM_000290.4(PGAM2):c.719G>A (p.Arg240Gln) rs369482159 0.00003
NM_000290.4(PGAM2):c.252T>C (p.Thr84=) rs755125202 0.00002
NM_000290.4(PGAM2):c.276C>T (p.Tyr92=) rs201201589 0.00002
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_001014436.3(DBNL):c.*3905G>A rs760737158 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.331C>T (p.Gln111Ter) rs764676548 0.00001
NM_000290.4(PGAM2):c.363C>T (p.Ile121=) rs768642477 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
NM_000290.4(PGAM2):c.90G>A (p.Leu30=) rs759827542 0.00001
NC_000007.13:g.(?_44102363)_(44105128_?)del
NC_000007.13:g.(?_44102363)_(44105128_?)dup
NM_000290.4(PGAM2):c.106G>A (p.Glu36Lys)
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.15C>T (p.Arg5=)
NM_000290.4(PGAM2):c.160del (p.Ile54fs)
NM_000290.4(PGAM2):c.161T>C (p.Ile54Thr)
NM_000290.4(PGAM2):c.170C>T (p.Thr57Met)
NM_000290.4(PGAM2):c.173C>G (p.Ser58Ter)
NM_000290.4(PGAM2):c.183G>A (p.Lys61=)
NM_000290.4(PGAM2):c.193C>T (p.Arg65Cys)
NM_000290.4(PGAM2):c.201C>T (p.Leu67=)
NM_000290.4(PGAM2):c.221C>T (p.Thr74Met)
NM_000290.4(PGAM2):c.222G>A (p.Thr74=)
NM_000290.4(PGAM2):c.234G>A (p.Trp78Ter)
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.300G>A (p.Lys100=)
NM_000290.4(PGAM2):c.309G>A (p.Thr103=)
NM_000290.4(PGAM2):c.321C>T (p.His107=)
NM_000290.4(PGAM2):c.330G>A (p.Glu110=)
NM_000290.4(PGAM2):c.33C>T (p.His11=)
NM_000290.4(PGAM2):c.342C>T (p.Ile114=)
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.369G>A (p.Pro123=)
NM_000290.4(PGAM2):c.372C>A (p.Pro124=)
NM_000290.4(PGAM2):c.382G>A (p.Glu128Lys)
NM_000290.4(PGAM2):c.393C>T (p.Pro131=)
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.441C>T (p.Pro147=)
NM_000290.4(PGAM2):c.442G>C (p.Gly148Arg)
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile) rs199869174
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.489C>T (p.Ala163=) rs1201379677
NM_000290.4(PGAM2):c.501G>C (p.Trp167Cys)
NM_000290.4(PGAM2):c.504C>T (p.Asn168=)
NM_000290.4(PGAM2):c.505G>A (p.Glu169Lys)
NM_000290.4(PGAM2):c.511A>C (p.Ile171Leu) rs372452057
NM_000290.4(PGAM2):c.511A>G (p.Ile171Val) rs372452057
NM_000290.4(PGAM2):c.51C>A (p.Asn17Lys)
NM_000290.4(PGAM2):c.533del (p.Gly178fs) rs747947171
NM_000290.4(PGAM2):c.538C>T (p.Arg180Ter)
NM_000290.4(PGAM2):c.558C>T (p.His186=)
NM_000290.4(PGAM2):c.576C>T (p.Gly192=) rs2096156189
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.63T>C (p.Arg21=)
NM_000290.4(PGAM2):c.673A>C (p.Lys225Gln)
NM_000290.4(PGAM2):c.684G>A (p.Lys228=)
NM_000290.4(PGAM2):c.70G>A (p.Gly24Ser)
NM_000290.4(PGAM2):c.713C>T (p.Thr238Met)
NM_000290.4(PGAM2):c.714G>A (p.Thr238=)
NM_000290.4(PGAM2):c.720G>C (p.Arg240=)
NM_000290.4(PGAM2):c.81T>C (p.Asp27=)
NM_000290.4(PGAM2):c.93T>G (p.Ser31Arg)
NM_001014436.3(DBNL):c.*2022G>A
NM_001014436.3(DBNL):c.*2031A>G
NM_001014436.3(DBNL):c.*3899C>T
NM_001014436.3(DBNL):c.*3913C>A
NM_001014436.3(DBNL):c.*4100G>A
NM_001014436.3(DBNL):c.*4101G>A rs2128796345
NM_001014436.3(DBNL):c.*4108A>C
NM_001014436.3(DBNL):c.*4191G>A
NM_001014436.3(DBNL):c.*4194G>A rs2128796381

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