List of variants in gene FRMD7 reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_194277.3(FRMD7):c.425T>G (p.Leu142Arg)	rs137852211	0.00001
NM_194277.3(FRMD7):c.580G>A (p.Ala194Thr)	rs1429474154	0.00001
NM_194277.3(FRMD7):c.1248del (p.Phe416fs)
NM_194277.3(FRMD7):c.1370dup (p.Met457fs)	rs2124209063
NM_194277.3(FRMD7):c.57+1G>A	rs2520938847
NM_194277.3(FRMD7):c.782G>A (p.Arg261Gln)	rs1332489637
NM_194277.3(FRMD7):c.902A>G (p.Tyr301Cys)	rs1297486092
NM_194277.3(FRMD7):c.906-2A>G	rs2124212698

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