List of variants in gene MCOLN1, PNPLA6 studied for hereditary spastic paraplegia

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

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_006702.5(PNPLA6):c.-261T>C	rs560849	0.29546
NM_006702.5(PNPLA6):c.-96A>C	rs604959	0.27892
NM_001166114.2(PNPLA6):c.183G>A (p.Val61=)	rs35732838	0.01999
NM_006702.5(PNPLA6):c.-214C>T	rs141371215	0.01588
NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu)	rs112732576	0.01318
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala)	rs188353745	0.00215
NM_020533.3(MCOLN1):c.1458C>A (p.Arg486=)	rs1453967813	0.00001

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