ClinVar Miner

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

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr) rs150570281 0.00132
NM_000290.4(PGAM2):c.459C>T (p.Cys153=) rs143809043 0.00089
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.36C>T (p.Gly12=) rs369660945 0.00006
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.276C>T (p.Tyr92=) rs201201589 0.00002
NM_001014436.3(DBNL):c.*3905G>A rs760737158 0.00002
NM_000290.4(PGAM2):c.90G>A (p.Leu30=) rs759827542 0.00001
NM_000290.4(PGAM2):c.15C>T (p.Arg5=)
NM_000290.4(PGAM2):c.183G>A (p.Lys61=)
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.33C>T (p.His11=)
NM_000290.4(PGAM2):c.393C>T (p.Pro131=)
NM_000290.4(PGAM2):c.441C>T (p.Pro147=)
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile) rs199869174
NM_000290.4(PGAM2):c.558C>T (p.His186=)
NM_000290.4(PGAM2):c.63T>C (p.Arg21=)
NM_000290.4(PGAM2):c.684G>A (p.Lys228=)
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_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.*4100G>A
NM_001014436.3(DBNL):c.*4101G>A rs2128796345
NM_001014436.3(DBNL):c.*4108A>C
NM_001014436.3(DBNL):c.*4191G>A

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