List of variants in gene TTPA reported as pathogenic for autosomal recessive metabolic cerebellar ataxia

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)	rs397515379	0.00010
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)	rs121917851	0.00004
NM_000370.3(TTPA):c.2T>C (p.Met1Thr)	rs786204758	0.00002
NM_000370.3(TTPA):c.552G>A (p.Thr184=)	rs181109321	0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)	rs35916840	0.00002
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)	rs397515522	0.00001
NM_000370.3(TTPA):c.205-1G>C	rs886040963	0.00001
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)	rs397515524	0.00001
NM_000370.3(TTPA):c.19del (p.Gln7fs)	rs760014795
NM_000370.3(TTPA):c.218_219dup (p.Tyr74fs)	rs766675875
NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer)	rs1554524061
NM_000370.3(TTPA):c.303T>G (p.His101Gln)	rs121917849
NM_000370.3(TTPA):c.487del (p.Trp163fs)	rs397515378
NM_000370.3(TTPA):c.530_531delinsGTAAGT (p.Lys177fs)	rs1554605631
NM_000370.3(TTPA):c.553-1G>T	rs2129741848
NM_000370.3(TTPA):c.744del (p.Glu249fs)	rs397515377

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