List of variants in gene combination LOC111413029, TAT reported as likely pathogenic for amino acid metabolism disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000353.3(TAT):c.440C>T (p.Ala147Val)
NM_000353.3(TAT):c.452G>A (p.Cys151Tyr)	rs1357257156
NM_000353.3(TAT):c.516C>A (p.Tyr172Ter)
NM_000353.3(TAT):c.556T>C (p.Tyr186His)	rs2145232912
NM_000353.3(TAT):c.568-2A>G	rs1555537871
NM_000353.3(TAT):c.599_603del (p.Gln200fs)
NM_000353.3(TAT):c.632_634delinsA (p.Cys211fs)
NM_000353.3(TAT):c.680_692del (p.Lys227fs)
NM_000353.3(TAT):c.690del (p.Gln231fs)
NM_000353.3(TAT):c.706+2T>C

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