ClinVar Miner

List of variants in gene SGSH reported as likely pathogenic by Invitae

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Total variants: 8
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HGVS dbSNP
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) rs764057581
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro) rs779703983
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) rs774010006
NM_000199.5(SGSH):c.268G>C (p.Gly90Arg)
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu) rs104894635
NM_000199.5(SGSH):c.745+1G>C
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254
NM_000199.5(SGSH):c.88_88+67del

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