ClinVar Miner

List of variants in gene GALNS reported by Mendelics

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.120+1532G>C rs34150867 0.38226
NM_000512.5(GALNS):c.121-3C>T rs1211862895
NM_000512.5(GALNS):c.1243-2A>C rs2142992422
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu) rs1597515555
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu) rs727503946
NM_000512.5(GALNS):c.426T>A (p.His142Gln) rs754616917
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser) rs569725936

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