List of variants reported as pathogenic for myopathy caused by variation in FKRP by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	rs28937900	0.00103
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)	rs543163491	0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)	rs104894691	0.00004
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)	rs121908110	0.00002
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)	rs770711331	0.00002
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)	rs104894682	0.00001
NM_024301.5(FKRP):c.1141dup (p.Ala381fs)	rs754403441
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs)	rs1290836394
NM_024301.5(FKRP):c.948del (p.Cys317fs)	rs748798133

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