ClinVar Miner

List of variants in gene combination LOC130005193, SMPD1 reported as likely benign for Niemann-Pick disease, type B; Niemann-Pick disease, type A

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.8G>A (p.Arg3His) rs199836262 0.00063
NM_000543.5(SMPD1):c.39C>T (p.Pro13=) rs775473869 0.00004
NM_000543.5(SMPD1):c.75C>T (p.Ala25=) rs1312090680 0.00001
NM_000543.5(SMPD1):c.84C>T (p.Pro28=) rs577769499 0.00001
NM_000543.5(SMPD1):c.90C>A (p.Leu30=) rs748793138 0.00001
NM_000543.5(SMPD1):c.24C>A (p.Leu8=)
NM_000543.5(SMPD1):c.30G>A (p.Gln10=) rs1847855057
NM_000543.5(SMPD1):c.33C>T (p.Ser11=)
NM_000543.5(SMPD1):c.36C>T (p.Cys12=) rs767287886
NM_000543.5(SMPD1):c.45C>T (p.Ser15=)
NM_000543.5(SMPD1):c.49C>A (p.Arg17=)
NM_000543.5(SMPD1):c.60A>G (p.Gly20=)
NM_000543.5(SMPD1):c.66C>T (p.Asp22=) rs886048444
NM_000543.5(SMPD1):c.6C>T (p.Pro2=)
NM_000543.5(SMPD1):c.72C>A (p.Thr24=) rs886043870
NM_000543.5(SMPD1):c.72C>T (p.Thr24=) rs886043870
NM_000543.5(SMPD1):c.84C>G (p.Pro28=) rs577769499
NM_000543.5(SMPD1):c.90C>T (p.Leu30=) rs748793138
NM_000543.5(SMPD1):c.9C>G (p.Arg3=)
NM_000543.5(SMPD1):c.9C>T (p.Arg3=) rs2134004441

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