ClinVar Miner

List of variants studied for mucopolysaccharidosis type 3A by Myriad Genetics, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689 0.00001
NM_000199.5(SGSH):c.148_149insAGTG (p.Leu50fs)
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro) rs779703983
NM_000199.5(SGSH):c.333_335delinsTGGT (p.Ser112fs)
NM_000199.5(SGSH):c.341_342insGCTCACC (p.Gly115fs)
NM_000199.5(SGSH):c.396C>A (p.Tyr132Ter)
NM_000199.5(SGSH):c.47_48del (p.Gly16fs)
NM_000199.5(SGSH):c.525_526insA (p.Ala176fs)
NM_000199.5(SGSH):c.573_574del (p.Thr192fs)

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