List of variants in gene CLPP studied for Perrault syndrome 3

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_006012.4(CLPP):c.-5G>A	rs75589928	0.05394
NM_006012.4(CLPP):c.555+16G>A	rs74894429	0.00063
NM_006012.4(CLPP):c.791T>C (p.Val264Ala)	rs112719208	0.00004
NM_006012.4(CLPP):c.173T>G (p.Leu58Arg)	rs980193170	0.00001
NM_006012.4(CLPP):c.21del (p.Ala10fs)	rs756490492	0.00001
NM_006012.4(CLPP):c.484G>A (p.Gly162Ser)	rs780624187	0.00001
NM_006012.4(CLPP):c.520C>T (p.Arg174Cys)	rs1244525711	0.00001
NM_006012.4(CLPP):c.1A>G (p.Met1Val)	rs1217350095
NM_006012.4(CLPP):c.299T>C (p.Ile100Thr)	rs2145048931
NM_006012.4(CLPP):c.328del (p.Ser110fs)
NM_006012.4(CLPP):c.400G>C (p.Asp134His)
NM_006012.4(CLPP):c.433A>C (p.Thr145Pro)	rs398123033
NM_006012.4(CLPP):c.439T>A (p.Cys147Ser)	rs2091852209
NM_006012.4(CLPP):c.440G>C (p.Cys147Ser)	rs398123034
NM_006012.4(CLPP):c.624C>G (p.Ile208Met)	rs1555719766
NM_006012.4(CLPP):c.661G>T (p.Glu221Ter)

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