List of variants in gene FLVCR2 reported as likely pathogenic for Fowler syndrome

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_017791.3(FLVCR2):c.1318G>A (p.Gly440Ser)	rs752732384	0.00001
NM_017791.3(FLVCR2):c.191del (p.Leu64fs)
NM_017791.3(FLVCR2):c.391dup (p.Met131fs)	rs1594785775
NM_017791.3(FLVCR2):c.52dup (p.Glu18fs)	rs2504063396

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