List of variants in gene C19orf12 studied for Hereditary spastic paraplegia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_031448.6(C19orf12):c.392A>C (p.Lys131Thr)	rs79915936	0.00444
NM_031448.6(C19orf12):c.69G>A (p.Ala23=)	rs201118405	0.00414
NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg)	rs73023451	0.00256
NM_031448.6(C19orf12):c.313G>A (p.Val105Met)	rs146492790	0.00095
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)	rs146170087	0.00094
NM_031448.6(C19orf12):c.*3C>T	rs372139389	0.00007
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg)	rs200133991	0.00002
NM_031448.6(C19orf12):c.180G>C (p.Leu60=)	rs762116472	0.00001
NM_031448.6(C19orf12):c.290G>A (p.Arg97Lys)	rs778618279	0.00001
NM_031448.6(C19orf12):c.59A>G (p.Lys20Arg)	rs901084258	0.00001
NM_031448.6(C19orf12):c.166del	rs398122409

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