List of variants in gene FHL1 reported as likely pathogenic for X-linked myopathy with postural muscle atrophy

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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: 9

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HGVS	dbSNP	gnomAD frequency
NC_000023.10:g.(?_135292010)_(135292184_?)del
NM_001159699.2(FHL1):c.205-1G>A	rs2073859427
NM_001159699.2(FHL1):c.377_379+24del	rs2148373814
NM_001159699.2(FHL1):c.380-2A>G	rs2148375467
NM_001159699.2(FHL1):c.498C>G (p.Cys166Trp)	rs145445372
NM_001159699.2(FHL1):c.506G>A (p.Cys169Tyr)	rs122458145
NM_001159699.2(FHL1):c.50T>C (p.Met17Thr)
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)	rs122458141
NM_001159699.2(FHL1):c.874T>A (p.Cys292Ser)	rs1556639771

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