ClinVar Miner

List of variants studied for Sialidosis, type II by OMIM

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Total variants: 12
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HGVS dbSNP
NEU1, 1-BP DEL, 1337C
NM_000434.4(NEU1):c.1021+1G>C
NM_000434.4(NEU1):c.1088T>C (p.Leu363Pro) rs193922915
NM_000434.4(NEU1):c.239C>T (p.Pro80Leu) rs104893985
NM_000434.4(NEU1):c.272T>G (p.Leu91Arg) rs104893972
NM_000434.4(NEU1):c.625del (p.Glu209fs)
NM_000434.4(NEU1):c.674G>C (p.Arg225Pro) rs104893980
NM_000434.4(NEU1):c.69G>A (p.Trp23Ter) rs104893986
NM_000434.4(NEU1):c.718T>C (p.Trp240Arg) rs104893978
NM_000434.4(NEU1):c.779T>A (p.Phe260Tyr) rs104893977
NM_000434.4(NEU1):c.87G>A (p.Trp29Ter) rs104893984
NM_000434.4(NEU1):c.893C>T (p.Ala298Val) rs104893981

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