List of variants in gene TTLL5 studied for cone-rod dystrophy 19

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_015072.5(TTLL5):c.1709-7T>C	rs2359870	0.99609
NM_015072.5(TTLL5):c.446C>T (p.Ala149Val)	rs2303345	0.48575
NM_015072.5(TTLL5):c.1226G>A (p.Arg409Gln)	rs142465256	0.00090
NM_015072.5(TTLL5):c.1627G>A (p.Glu543Lys)	rs199882533	0.00024
NM_015072.5(TTLL5):c.1781A>G (p.Asp594Gly)	rs148938066	0.00010
NM_015072.5(TTLL5):c.1166C>G (p.Ser389Ter)	rs774889687	0.00002
NM_015072.5(TTLL5):c.2029C>T (p.Arg677Ter)	rs138370992	0.00002
NM_015072.5(TTLL5):c.1586_1589del (p.Glu529fs)	rs587777469
NM_015072.5(TTLL5):c.1627G>T (p.Glu543Ter)	rs199882533
NM_015072.5(TTLL5):c.2782dup (p.Met928fs)	rs1555345387
NM_015072.5(TTLL5):c.3354G>A (p.Trp1118Ter)	rs587777471
NM_015072.5(TTLL5):c.401del (p.Leu134fs)	rs587777470
NM_015072.5(TTLL5):c.987A>T (p.Glu329Asp)	rs1555384338

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