List of variants in gene TMLHE studied for epsilon-trimethyllysine hydroxylase deficiency

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

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_018196.4(TMLHE):c.1107G>T (p.Glu369Asp)	rs782001959	0.00571
NM_018196.4(TMLHE):c.278G>A (p.Arg93His)	rs145371120	0.00016
NM_018196.4(TMLHE):c.229C>T (p.Arg77Ter)	rs781889971	0.00005
NM_018196.4(TMLHE):c.491C>T (p.Ser164Leu)	rs369612445	0.00002
NM_018196.4(TMLHE):c.359-2A>G	rs782792356	0.00001
NM_018196.4(TMLHE):c.523G>A (p.Glu175Lys)
NM_018196.4(TMLHE):c.638+2del	rs2124340926
NM_018196.4(TMLHE):c.638+83_995+2127del
NM_018196.4(TMLHE):c.6G>T (p.Trp2Cys)	rs782121512
NM_018196.4(TMLHE):c.730G>C (p.Asp244His)	rs869320708
NM_018196.4(TMLHE):c.794C>T (p.Thr265Ile)	rs1557332788
NM_018196.4(TMLHE):c.961_962del (p.Ile321fs)	rs782624357
NM_018196.4(TMLHE):c.995+2T>C

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