List of variants in gene combination LOC130005193, SMPD1 reported as pathogenic for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NC_000011.10:g.6390221_6390884del
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter)	rs1205990349
NM_000543.5(SMPD1):c.39del (p.Arg14fs)	rs2134004594
NM_000543.5(SMPD1):c.43del (p.Ser15fs)	rs2134004628
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.61C>T (p.Gln21Ter)	rs1554933751
NM_000543.5(SMPD1):c.69del (p.Thr24fs)
NM_000543.5(SMPD1):c.7del (p.Arg3fs)	rs281860663
NM_000543.5(SMPD1):c.84del (p.Gly29fs)	rs750157176

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