List of variants in gene FXR1 studied for congenital myopathy

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_005087.4(FXR1):c.52-7C>T	rs202081242	0.00249
NM_005087.4(FXR1):c.1603+725dup
NM_005087.4(FXR1):c.1603+733del	rs769011065
NM_005087.4(FXR1):c.1603+733dup
NM_005087.4(FXR1):c.1603+790_1603+793del	rs1577005361
NM_005087.4(FXR1):c.247A>G (p.Lys83Glu)	rs1721862059
NM_005087.4(FXR1):c.28G>T (p.Gly10Cys)
NM_005087.4(FXR1):c.346A>G (p.Asn116Asp)	rs1721905984

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