List of variants in gene FRMD7 reported as pathogenic by OMIM

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_194277.3(FRMD7):c.1003C>T (p.Arg335Ter)	rs137852208	0.00001
NM_194277.3(FRMD7):c.425T>G (p.Leu142Arg)	rs137852211	0.00001
NM_194277.3(FRMD7):c.691T>G (p.Leu231Val)	rs387906720	0.00001
NM_194277.3(FRMD7):c.1050+5G>A	rs1602791884
NM_194277.3(FRMD7):c.1275_1276del (p.Glu426fs)	rs2124209414
NM_194277.3(FRMD7):c.205+2T>G	rs1928435502
NM_194277.3(FRMD7):c.252G>A (p.Val84=)	rs137852209
NM_194277.3(FRMD7):c.38AGA[1] (p.Lys14del)	rs1929191668
NM_194277.3(FRMD7):c.601C>T (p.Gln201Ter)	rs137852207
NM_194277.3(FRMD7):c.685C>G (p.Arg229Gly)	rs137852212
NM_194277.3(FRMD7):c.70G>A (p.Gly24Arg)	rs137852210
NM_194277.3(FRMD7):c.812G>A (p.Cys271Tyr)	rs387906721

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