ClinVar Miner

List of variants in gene SGSH, SLC26A11 studied for Sanfilippo syndrome type A

Included ClinVar conditions (1):
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Total variants: 3
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HGVS dbSNP
NM_000199.5(SGSH):c.-12_-10GCC[5] (p.Met1_Ser2insAla) rs1555624208
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868

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