ClinVar Miner

List of variants in gene GALNS reported by Centogene AG - the Rare Disease Company

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128 0.00001
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.121-202A>G rs550044789
NM_000512.5(GALNS):c.423-862C>T rs1597575641
NM_000512.5(GALNS):c.498C>G (p.His166Gln) rs1301198698

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