ClinVar Miner

List of variants in gene LOC130005193, SMPD1 studied for Niemann-Pick disease, type B; Niemann-Pick disease, type A

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Total variants: 35
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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.56A>G (p.Gln19Arg) rs144465428 0.00014
NM_000543.5(SMPD1):c.39C>T (p.Pro13=) rs775473869 0.00004
NM_000543.5(SMPD1):c.58G>A (p.Gly20Arg) rs538153468 0.00003
NM_000543.5(SMPD1):c.75C>T (p.Ala25=) rs1312090680 0.00001
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu) rs556155962 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
NC_000011.10:g.6390221_6390884del
NM_000543.5(SMPD1):c.24C>A (p.Leu8=)
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter) rs1205990349
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.39del (p.Arg14fs) rs2134004594
NM_000543.5(SMPD1):c.43del (p.Ser15fs) rs2134004628
NM_000543.5(SMPD1):c.45C>T (p.Ser15=)
NM_000543.5(SMPD1):c.49C>A (p.Arg17=)
NM_000543.5(SMPD1):c.50G>A (p.Arg17Gln)
NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter) rs1428487333
NM_000543.5(SMPD1):c.56del (p.Gln19fs) rs1554933746
NM_000543.5(SMPD1):c.57_60dup (p.Gln21fs) rs1847857299
NM_000543.5(SMPD1):c.60A>G (p.Gly20=)
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter) rs1554933751
NM_000543.5(SMPD1):c.66C>T (p.Asp22=) rs886048444
NM_000543.5(SMPD1):c.69del (p.Thr24fs)
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.7del (p.Arg3fs) rs281860663
NM_000543.5(SMPD1):c.84C>G (p.Pro28=) rs577769499
NM_000543.5(SMPD1):c.84del (p.Gly29fs) rs750157176
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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