List of variants in gene FXN, LOC130001862 studied for cerebellar ataxia

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000144.5(FXN):c.54A>G (p.Pro18=)	rs2481598	0.98511
NM_000144.5(FXN):c.146C>A (p.Thr49Asn)	rs995690945	0.00004
NM_000144.5(FXN):c.3G>T (p.Met1Ile)	rs104894108	0.00001
NM_000144.5(FXN):c.11_12del (p.Leu4fs)	rs143232208
NM_000144.5(FXN):c.157del (p.Arg53fs)	rs141935559

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