ClinVar Miner

List of variants in gene combination DBNL, PGAM2 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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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.232T>C (p.Trp78Arg)
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.288A>G (p.Thr96=) rs139561812
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727
NM_000290.4(PGAM2):c.35_37del (p.Gly12del)
NM_000290.4(PGAM2):c.365C>T (p.Pro122Leu)
NM_000290.4(PGAM2):c.36C>T (p.Gly12=)
NM_000290.4(PGAM2):c.374C>T (p.Pro125Leu) rs1385458139
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.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.611C>T (p.Ala204Val) rs747760221
NM_000290.4(PGAM2):c.62G>A (p.Arg21His)
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_001014436.3(DBNL):c.*4668T>G rs528717273

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