ClinVar Miner

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

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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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.726C>T (p.Ala242=) rs142209394 0.00118
NM_000290.4(PGAM2):c.459C>T (p.Cys153=) rs143809043 0.00089
NM_001014436.3(DBNL):c.*4099G>A rs201133395 0.00048
NM_001014436.3(DBNL):c.*4668T>G rs528717273 0.00038
NM_000290.4(PGAM2):c.119G>A (p.Arg40Gln) rs140545494 0.00032
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727 0.00026
NM_000290.4(PGAM2):c.288A>G (p.Thr96=) rs139561812 0.00023
NM_001014436.3(DBNL):c.*1813T>C rs374509693 0.00016
NM_001014436.3(DBNL):c.*4645dup rs554686318 0.00016
NM_000290.4(PGAM2):c.16C>G (p.Leu6Val) rs750344114 0.00012
NM_000290.4(PGAM2):c.194G>A (p.Arg65His) rs200420235 0.00010
NM_000290.4(PGAM2):c.115A>C (p.Lys39Gln) rs147126221 0.00006
NM_000290.4(PGAM2):c.148A>C (p.Met50Leu) rs151308911 0.00006
NM_000290.4(PGAM2):c.532G>A (p.Gly178Ser) rs772187619 0.00006
NM_000290.4(PGAM2):c.755C>A (p.Ala252Asp) rs752958758 0.00006
NM_001014436.3(DBNL):c.*2021C>T rs372222997 0.00006
NM_000290.4(PGAM2):c.571C>T (p.Arg191Trp) rs368258088 0.00004
NM_000290.4(PGAM2):c.719G>A (p.Arg240Gln) rs369482159 0.00003
NM_000290.4(PGAM2):c.37G>A (p.Glu13Lys) rs1026868358 0.00002
NM_000290.4(PGAM2):c.143C>T (p.Ala48Val) rs1308236739 0.00001
NM_000290.4(PGAM2):c.19G>A (p.Val7Met) rs774293728 0.00001
NM_000290.4(PGAM2):c.268C>T (p.Arg90Trp) rs104894034 0.00001
NM_000290.4(PGAM2):c.545T>C (p.Leu182Pro) rs749757183 0.00001
NM_000290.4(PGAM2):c.611C>T (p.Ala204Val) rs747760221 0.00001
NM_000290.4(PGAM2):c.106G>A (p.Glu36Lys)
NM_000290.4(PGAM2):c.125C>T (p.Ala42Val)
NM_000290.4(PGAM2):c.136A>G (p.Lys46Glu)
NM_000290.4(PGAM2):c.13C>T (p.Arg5Cys)
NM_000290.4(PGAM2):c.14G>A (p.Arg5His)
NM_000290.4(PGAM2):c.155T>C (p.Phe52Ser)
NM_000290.4(PGAM2):c.161T>C (p.Ile54Thr)
NM_000290.4(PGAM2):c.170C>T (p.Thr57Met)
NM_000290.4(PGAM2):c.193C>T (p.Arg65Cys)
NM_000290.4(PGAM2):c.28C>T (p.Arg10Trp)
NM_000290.4(PGAM2):c.29G>A (p.Arg10Gln)
NM_000290.4(PGAM2):c.35_37del (p.Gly12del) rs2096158222
NM_000290.4(PGAM2):c.382G>A (p.Glu128Lys)
NM_000290.4(PGAM2):c.419G>A (p.Arg140His)
NM_000290.4(PGAM2):c.422G>A (p.Arg141Gln)
NM_000290.4(PGAM2):c.426C>T (p.Tyr142=) rs376134077
NM_000290.4(PGAM2):c.431G>A (p.Gly144Asp)
NM_000290.4(PGAM2):c.442G>C (p.Gly148Arg)
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile) rs199869174
NM_000290.4(PGAM2):c.460G>A (p.Glu154Lys)
NM_000290.4(PGAM2):c.51C>A (p.Asn17Lys)
NM_000290.4(PGAM2):c.576C>T (p.Gly192=) rs2096156189
NM_000290.4(PGAM2):c.595G>T (p.Gly199Trp)
NM_000290.4(PGAM2):c.59A>C (p.Asn20Thr)
NM_000290.4(PGAM2):c.62G>A (p.Arg21His) rs1392611950
NM_000290.4(PGAM2):c.673A>C (p.Lys225Gln)
NM_000290.4(PGAM2):c.70G>A (p.Gly24Ser)
NM_000290.4(PGAM2):c.713C>T (p.Thr238Met)
NM_000290.4(PGAM2):c.93T>G (p.Ser31Arg)
NM_001014436.3(DBNL):c.*3913C>A
NM_001014436.3(DBNL):c.*4194G>A rs2128796381

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