List of variants in gene SLC33A1 studied for hereditary spastic paraplegia 42

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_004733.4(SLC33A1):c.512A>G (p.Asp171Gly)	rs3804769	0.07382
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)	rs76440173	0.00267
NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr)	rs144015992	0.00190
NM_004733.4(SLC33A1):c.1505C>T (p.Ser502Leu)	rs149578822	0.00010
NM_004733.4(SLC33A1):c.1559T>C (p.Ile520Thr)	rs777143987	0.00009
NM_004733.4(SLC33A1):c.1363G>A (p.Val455Met)
NM_004733.4(SLC33A1):c.1511_1521del (p.Val504fs)	rs772861569
NM_004733.4(SLC33A1):c.339T>G (p.Ser113Arg)	rs121909484
NM_004733.4(SLC33A1):c.353C>G (p.Pro118Arg)	rs1753504839

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