List of variants in gene CSTB reported by Athena Diagnostics Inc

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000100.4(CSTB):c.121G>A (p.Val41Met)	rs143153487	0.00101
NM_000100.4(CSTB):c.67-1G>C	rs147484110	0.00027
NM_000100.4(CSTB):c.167A>G (p.Lys56Arg)	rs935774172	0.00003
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)	rs74315442	0.00002
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter)	rs545986367	0.00001
NM_000100.4(CSTB):c.145del (p.Ala49fs)
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)	rs796943858
NM_000100.4(CSTB):c.67-4C>G	rs2084002305

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