ClinVar Miner

List of variants reported as benign for carbohydrate metabolism disease by GeneReviews

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.3(GALT):c.[652C>T;c.940A>G]
NM_000155.4(GALT):c.378-27G>C rs41274865
NM_000155.4(GALT):c.507+62G>A rs2277202
NM_000155.4(GALT):c.508-24G>A rs41274867
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000203.5(IDUA):c.236C>T (p.Ala79Val) rs747981483
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191
NM_001040716.2(PC):c.1054G>T (p.Ala352Ser) rs1051704
NM_001040716.2(PC):c.227A>T (p.His76Leu) rs7104156
NM_001040716.2(PC):c.2286C>G (p.Arg762=) rs1051707
NM_001040716.2(PC):c.2619C>T (p.Asn873=) rs2229745
NM_001040716.2(PC):c.2874G>T (p.Gly958=) rs1131855
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.4(PYGM):c.1289C>T (p.Ser430Leu) rs1212604
NM_005609.4(PYGM):c.1365C>T (p.Gly455=) rs1056780
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) rs11231865
NM_005609.4(PYGM):c.564C>A (p.Asn188Lys) rs604595
NM_012203.1(GRHPR):c.866-25CT[9] rs34302950
NM_012203.2(GRHPR):c.579A>G (p.Ala193=) rs309458

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