List of variants in gene TMEM138 reported as pathogenic for 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_016464.5(TMEM138):c.128+5G>A	rs917404097	0.00001
NM_016464.5(TMEM138):c.94C>T (p.Gln32Ter)	rs146264153	0.00001
NC_000011.9:g.(?_61133497)_(61133708_?)del
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)	rs387907132
NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs)	rs771224190
NM_016464.5(TMEM138):c.306dup (p.Arg103fs)
NM_016464.5(TMEM138):c.307del (p.Arg103fs)
NM_016464.5(TMEM138):c.311G>A (p.Trp104Ter)
NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr)	rs387907134
NM_016464.5(TMEM138):c.377-3C>G	rs774110963
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val)	rs387907133
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)	rs387907135
NM_016464.5(TMEM138):c.83del (p.Phe27_Ser28insTer)	rs2135153244

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