ClinVar Miner

List of variants studied for X-linked myopathy with postural muscle atrophy by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001159699.2(FHL1):c.428_430dup (p.Phe143_Thr144insIle)	rs1603271580
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)	rs122458141
NM_001159699.2(FHL1):c.736+1G>A	rs786200914
NM_001159702.3(FHL1):c.838G>A (p.Val280Met)	rs267606811

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