ClinVar Miner

List of variants in gene combination DBNL, PGAM2 reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000290.4(PGAM2):c.276C>T (p.Tyr92=)
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr) rs150570281
NM_000290.4(PGAM2):c.366G>A (p.Pro122=) rs143830182
NM_000290.4(PGAM2):c.375G>A (p.Pro125=) rs145985559
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile)
NM_000290.4(PGAM2):c.596-3T>C rs367994618
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.90G>A (p.Leu30=)

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