ClinVar Miner

List of variants in gene DBNL, PGAM2 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP
NM_000290.4(PGAM2):c.*35A>G rs374509693
NM_000290.4(PGAM2):c.-32dup rs554686318
NM_000290.4(PGAM2):c.115A>C (p.Lys39Gln)
NM_000290.4(PGAM2):c.119G>A (p.Arg40Gln) rs140545494
NM_000290.4(PGAM2):c.143C>T (p.Ala48Val)
NM_000290.4(PGAM2):c.148A>C (p.Met50Leu) rs151308911
NM_000290.4(PGAM2):c.194G>A (p.Arg65His)
NM_000290.4(PGAM2):c.19G>A (p.Val7Met)
NM_000290.4(PGAM2):c.216C>T (p.Asp72=) rs111656877
NM_000290.4(PGAM2):c.232T>C (p.Trp78Arg)
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779
NM_000290.4(PGAM2):c.244G>A (p.Val82Met)
NM_000290.4(PGAM2):c.244G>T (p.Val82Leu) rs528467394
NM_000290.4(PGAM2):c.252T>C (p.Thr84=)
NM_000290.4(PGAM2):c.256C>T (p.Arg86Cys)
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala) rs104894030
NM_000290.4(PGAM2):c.268C>T (p.Arg90Trp) rs104894034
NM_000290.4(PGAM2):c.276C>T (p.Tyr92=)
NM_000290.4(PGAM2):c.288A>G (p.Thr96=) rs139561812
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr) rs150570281
NM_000290.4(PGAM2):c.324G>A (p.Gly108=) rs112828964
NM_000290.4(PGAM2):c.331C>T (p.Gln111Ter)
NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser) rs61756062
NM_000290.4(PGAM2):c.35_37del (p.Gly12del)
NM_000290.4(PGAM2):c.365C>T (p.Pro122Leu)
NM_000290.4(PGAM2):c.366G>A (p.Pro122=) rs143830182
NM_000290.4(PGAM2):c.36C>T (p.Gly12=)
NM_000290.4(PGAM2):c.374C>T (p.Pro125Leu) rs1385458139
NM_000290.4(PGAM2):c.375G>A (p.Pro125=) rs145985559
NM_000290.4(PGAM2):c.414+6C>T
NM_000290.4(PGAM2):c.415-3C>T rs201133395
NM_000290.4(PGAM2):c.426C>T (p.Tyr142=) rs376134077
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile)
NM_000290.4(PGAM2):c.459C>T (p.Cys153=) rs143809043
NM_000290.4(PGAM2):c.480T>C (p.Ile160=)
NM_000290.4(PGAM2):c.501G>T (p.Trp167Cys)
NM_000290.4(PGAM2):c.511A>C (p.Ile171Leu)
NM_000290.4(PGAM2):c.533del (p.Gly178fs) rs747947171
NM_000290.4(PGAM2):c.545T>C (p.Leu182Pro)
NM_000290.4(PGAM2):c.571C>T (p.Arg191Trp)
NM_000290.4(PGAM2):c.576C>T (p.Gly192=)
NM_000290.4(PGAM2):c.596-3T>C rs367994618
NM_000290.4(PGAM2):c.611C>T (p.Ala204Val) rs747760221
NM_000290.4(PGAM2):c.62G>A (p.Arg21His)
NM_000290.4(PGAM2):c.636G>A (p.Thr212=) rs755991460
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala) rs140230479
NM_000290.4(PGAM2):c.719G>A (p.Arg240Gln)
NM_000290.4(PGAM2):c.726C>T (p.Ala242=) rs142209394
NM_000290.4(PGAM2):c.755C>A (p.Ala252Asp)
NM_000290.4(PGAM2):c.90G>A (p.Leu30=)
NM_001014436.3(DBNL):c.*4668T>G rs528717273

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