ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000181.4(GUSB):c.893C>T (p.Ala298Val) rs1451709678 0.00001
NM_000046.5(ARSB):c.290A>G (p.Gln97Arg) rs886039914
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter) rs1567914459
NM_000308.4(CTSA):c.580G>A (p.Asp194Asn) rs2145816069

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