ClinVar Miner

List of variants reported as likely pathogenic for Mucopolysaccharidosis, MPS-III-A by Invitae

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.301T>C (p.Phe101Leu) rs1322090067 0.00002
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu) rs104894642 0.00002
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr) rs1329133410 0.00001
NM_000199.5(SGSH):c.975G>T (p.Trp325Cys) rs201413321 0.00001
NM_000199.5(SGSH):c.1129C>A (p.Arg377Ser)
NM_000199.5(SGSH):c.1186T>C (p.Phe396Leu)
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.1340A>G (p.Glu447Gly)
NM_000199.5(SGSH):c.1431C>A (p.Asp477Glu)
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.188C>A (p.Ala63Asp)
NM_000199.5(SGSH):c.197C>T (p.Ser66Leu)
NM_000199.5(SGSH):c.239G>T (p.Gly80Val)
NM_000199.5(SGSH):c.250-2A>G
NM_000199.5(SGSH):c.254A>G (p.Gln85Arg)
NM_000199.5(SGSH):c.268G>C (p.Gly90Arg) rs774010006
NM_000199.5(SGSH):c.356-1G>A rs1555621984
NM_000199.5(SGSH):c.356-2A>G rs1057517927
NM_000199.5(SGSH):c.36_88+420del
NM_000199.5(SGSH):c.539C>T (p.Pro180Leu)
NM_000199.5(SGSH):c.663+1G>A
NM_000199.5(SGSH):c.664-1G>T rs1555621425
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu) rs1057521801
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.703G>C (p.Asp235His)
NM_000199.5(SGSH):c.703G>T (p.Asp235Tyr)
NM_000199.5(SGSH):c.733C>A (p.Arg245Ser)
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys) rs1455698449
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu) rs104894635
NM_000199.5(SGSH):c.88G>C (p.Ala30Pro) rs758793075
NM_000199.5(SGSH):c.88_88+67del rs2144830115
NM_000199.5(SGSH):c.89-2A>G rs1369704445
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg) rs1385473515

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