ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by New York Genome Center

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_001041.4(SI):c.1399-402_1513-1189dup
NM_003477.3(PDHX):c.1052A>G (p.Asp351Gly) rs200866298
NM_152419.3(HGSNAT):c.1228C>A (p.Leu410Met)

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