ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Daryl Scott Lab, Baylor College of Medicine

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_017721.5(CC2D1A):c.1399C>G (p.Pro467Ala) rs199717745 0.00060
NM_000202.8(IDS):c.1144G>C (p.Asp382His) rs370125505 0.00008
NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs) rs2063245185
NM_017721.5(CC2D1A):c.1276G>A (p.Val426Met) rs200445152

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