ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA by Invitae

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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_000151.4(G6PC1):c.81G>C (p.Gln27His) rs371611000 0.00019
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) rs143321486 0.00019
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile) rs768385469 0.00011
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser) rs369472089 0.00006
NM_000151.4(G6PC1):c.82G>A (p.Asp28Asn) rs750711451 0.00005
NM_000151.4(G6PC1):c.447G>A (p.Arg149=) rs549712764 0.00004
NM_000151.4(G6PC1):c.431C>T (p.Pro144Leu) rs1470923557 0.00002
NM_000151.4(G6PC1):c.109G>A (p.Ala37Thr) rs781064575 0.00001
NM_000151.4(G6PC1):c.175A>G (p.Ile59Val) rs774215572 0.00001
NM_000151.4(G6PC1):c.215A>G (p.Asn72Ser) rs753502076 0.00001
NM_000151.4(G6PC1):c.231-3T>C rs1233172989 0.00001
NM_000151.4(G6PC1):c.830C>A (p.Ser277Tyr) rs750048146 0.00001
NM_000151.4(G6PC1):c.895A>G (p.Ile299Val) rs1310542864 0.00001
NM_000151.4(G6PC1):c.961G>A (p.Val321Ile) rs756241523 0.00001
NC_000017.10:g.(?_41052894)_(41053143_?)dup
NC_000017.10:g.(?_41059520)_(41063443_?)dup
NM_000151.4(G6PC1):c.1012G>A (p.Val338Ile) rs367727229
NM_000151.4(G6PC1):c.1018_1027delinsA (p.Val340_Tyr343delinsAsn) rs1555560204
NM_000151.4(G6PC1):c.1036G>A (p.Ala346Thr)
NM_000151.4(G6PC1):c.1037C>T (p.Ala346Val)
NM_000151.4(G6PC1):c.103G>A (p.Val35Met)
NM_000151.4(G6PC1):c.1042del (p.Val348fs)
NM_000151.4(G6PC1):c.1055C>T (p.Pro352Leu)
NM_000151.4(G6PC1):c.1064A>G (p.Lys355Arg)
NM_000151.4(G6PC1):c.1066T>C (p.Ser356Pro)
NM_000151.4(G6PC1):c.1070_1072del (p.Leu357del)
NM_000151.4(G6PC1):c.121A>G (p.Asn41Asp)
NM_000151.4(G6PC1):c.127T>C (p.Phe43Leu)
NM_000151.4(G6PC1):c.133G>A (p.Val45Ile) rs145749644
NM_000151.4(G6PC1):c.133G>C (p.Val45Leu)
NM_000151.4(G6PC1):c.141C>G (p.Phe47Leu)
NM_000151.4(G6PC1):c.142C>T (p.Pro48Ser)
NM_000151.4(G6PC1):c.167C>A (p.Ala56Asp)
NM_000151.4(G6PC1):c.172G>A (p.Gly58Ser)
NM_000151.4(G6PC1):c.18T>A (p.Asn6Lys) rs144652516
NM_000151.4(G6PC1):c.193G>C (p.Ala65Pro) rs369472089
NM_000151.4(G6PC1):c.231-4A>G rs1200297208
NM_000151.4(G6PC1):c.250C>T (p.Pro84Ser)
NM_000151.4(G6PC1):c.256T>C (p.Trp86Arg) rs2056043139
NM_000151.4(G6PC1):c.269A>G (p.Asp90Gly)
NM_000151.4(G6PC1):c.27T>A (p.His9Gln)
NM_000151.4(G6PC1):c.295G>A (p.Val99Met)
NM_000151.4(G6PC1):c.341G>C (p.Gly114Ala) rs544563908
NM_000151.4(G6PC1):c.368C>A (p.Thr123Lys) rs765306500
NM_000151.4(G6PC1):c.383A>G (p.Tyr128Cys) rs2056069622
NM_000151.4(G6PC1):c.395C>T (p.Thr132Ile)
NM_000151.4(G6PC1):c.408C>T (p.Ser136=)
NM_000151.4(G6PC1):c.440G>A (p.Arg147Lys)
NM_000151.4(G6PC1):c.445C>T (p.Arg149Trp)
NM_000151.4(G6PC1):c.446G>A (p.Arg149Gln)
NM_000151.4(G6PC1):c.473G>A (p.Gly158Glu) rs2151931742
NM_000151.4(G6PC1):c.532C>G (p.Pro178Ala)
NM_000151.4(G6PC1):c.562+4T>A
NM_000151.4(G6PC1):c.563-3C>T rs1597991608
NM_000151.4(G6PC1):c.563G>A (p.Gly188Asp)
NM_000151.4(G6PC1):c.634A>T (p.Ile212Phe) rs756944737
NM_000151.4(G6PC1):c.638C>T (p.Thr213Ile) rs201649392
NM_000151.4(G6PC1):c.685G>A (p.Gly229Arg)
NM_000151.4(G6PC1):c.6_7delinsAA (p.Glu3Lys) rs2151929052
NM_000151.4(G6PC1):c.735C>T (p.Cys245=)
NM_000151.4(G6PC1):c.736G>A (p.Glu246Lys)
NM_000151.4(G6PC1):c.780C>A (p.Ser260Arg) rs748610705
NM_000151.4(G6PC1):c.800C>G (p.Thr267Arg)
NM_000151.4(G6PC1):c.836T>C (p.Met279Thr)
NM_000151.4(G6PC1):c.856G>A (p.Gly286Arg)
NM_000151.4(G6PC1):c.85T>A (p.Trp29Arg)
NM_000151.4(G6PC1):c.896T>C (p.Ile299Thr)
NM_000151.4(G6PC1):c.91A>T (p.Ile31Phe)
NM_000151.4(G6PC1):c.928G>A (p.Asp310Asn)
NM_000151.4(G6PC1):c.92T>A (p.Ile31Asn) rs538960604
NM_000151.4(G6PC1):c.944C>T (p.Pro315Leu)
NM_000151.4(G6PC1):c.970G>A (p.Val324Ile)
NM_000151.4(G6PC1):c.977C>G (p.Ser326Cys)
NM_000151.4(G6PC1):c.98T>A (p.Val33Glu)
NM_000151.4(G6PC1):c.990T>G (p.Ser330Arg) rs748053431

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