List of variants reported as uncertain significance for Neuronal ceroid lipofuscinosis 13

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Total variants: 37

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HGVS	dbSNP	gnomAD frequency
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg)	rs148611356	0.00107
NM_003793.4(CTSF):c.1315G>A (p.Gly439Ser)	rs140795906	0.00028
NM_003793.4(CTSF):c.206T>G (p.Val69Gly)	rs571179513	0.00028
NM_003793.4(CTSF):c.19C>T (p.Leu7Phe)	rs544669445	0.00019
NM_003793.4(CTSF):c.1243G>A (p.Gly415Arg)	rs200426008	0.00007
NM_003793.4(CTSF):c.1100A>G (p.Asn367Ser)	rs201500574	0.00006
NM_003793.4(CTSF):c.1237C>T (p.Arg413Cys)	rs779164010	0.00005
NM_003793.4(CTSF):c.133T>C (p.Phe45Leu)	rs1332760939	0.00004
NM_003793.4(CTSF):c.613C>T (p.Arg205Trp)	rs568250930	0.00004
NM_003793.4(CTSF):c.1253G>A (p.Arg418His)	rs141345438	0.00003
NM_003793.4(CTSF):c.587G>A (p.Arg196Gln)	rs143814748	0.00002
NM_003793.4(CTSF):c.1028C>T (p.Ser343Leu)	rs200646712	0.00001
NM_003793.4(CTSF):c.1069T>C (p.Tyr357His)	rs746404498	0.00001
NM_003793.4(CTSF):c.1175C>T (p.Ala392Val)	rs1857891935	0.00001
NM_003793.4(CTSF):c.1198A>G (p.Ile400Val)	rs780211076	0.00001
NM_003793.4(CTSF):c.1399C>T (p.Arg467Cys)	rs1005336445	0.00001
NM_003793.4(CTSF):c.473A>G (p.Asn158Ser)	rs372121871	0.00001
NM_003793.4(CTSF):c.722-3C>A	rs1857927546	0.00001
NM_003793.4(CTSF):c.956C>T (p.Ser319Phe)	rs1857917060	0.00001
NM_003793.4(CTSF):c.1045+4T>G
NM_003793.4(CTSF):c.109C>G (p.Pro37Ala)	rs1857985103
NM_003793.4(CTSF):c.1267C>T (p.Leu423Phe)	rs1285792511
NM_003793.4(CTSF):c.1283T>C (p.Leu428Pro)
NM_003793.4(CTSF):c.1285A>G (p.Ile429Val)	rs2495272227
NM_003793.4(CTSF):c.1350del (p.Asn451fs)	rs1565311637
NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu)	rs397514733
NM_003793.4(CTSF):c.160C>A (p.Arg54=)	rs776443007
NM_003793.4(CTSF):c.245_256del (p.Ala82_Glu85del)	rs768598547
NM_003793.4(CTSF):c.269A>G (p.Asn90Ser)
NM_003793.4(CTSF):c.280G>A (p.Val94Met)	rs2495284336
NM_003793.4(CTSF):c.614G>A (p.Arg205Gln)	rs142782021
NM_003793.4(CTSF):c.64G>T (p.Ala22Ser)	rs1472278206
NM_003793.4(CTSF):c.76G>C (p.Ala26Pro)	rs2495286470
NM_003793.4(CTSF):c.888G>T (p.Trp296Cys)	rs746013208
NM_003793.4(CTSF):c.955T>G (p.Ser319Ala)	rs1857917135
NM_003793.4(CTSF):c.95G>A (p.Trp32Ter)	rs1857985750
NM_003793.4(CTSF):c.988G>A (p.Asp330Asn)	rs750069810

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