ClinVar Miner

List of variants studied for Niemann-Pick disease, type A by 3billion

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs) rs281860676
NM_000543.5(SMPD1):c.1548T>G (p.His516Gln) rs1590747902
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser) rs2134024060
NM_000543.5(SMPD1):c.581dup (p.Ala195fs) rs748165078

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