ClinVar Miner

List of variants in gene SGSH, SLC26A11 studied for Mucopolysaccharidosis, MPS-III-A

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Total variants: 13
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NM_000199.5(SGSH):c.-12GCC[5] (p.Met1_Ser2insAla) rs1555624208
NM_000199.5(SGSH):c.12C>A (p.Pro4=) rs921772690
NM_000199.5(SGSH):c.12C>G (p.Pro4=) rs921772690
NM_000199.5(SGSH):c.12C>T (p.Pro4=)
NM_000199.5(SGSH):c.15G>C (p.Val5=)
NM_000199.5(SGSH):c.15G>T (p.Val5=)
NM_000199.5(SGSH):c.1A>C (p.Met1Leu) rs1250300189
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189
NM_000199.5(SGSH):c.24C>T (p.Cys8=)
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868
NM_000199.5(SGSH):c.6C>T (p.Ser2=) rs1043643087
NM_000199.5(SGSH):c.9C>T (p.Cys3=)

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