List of variants in gene GFER studied for Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_005262.3(GFER):c.456-83C>T	rs72766615	0.14880
NM_005262.3(GFER):c.373C>T (p.Gln125Ter)	rs771809901	0.00007
NM_005262.3(GFER):c.586C>T (p.Arg196Cys)	rs370475970	0.00007
NM_005262.3(GFER):c.581G>A (p.Arg194His)	rs121908192	0.00004
NM_005262.3(GFER):c.580C>T (p.Arg194Cys)	rs780851934	0.00003
NM_005262.3(GFER):c.566C>G (p.Ser189Ter)	rs373135339	0.00002
NM_005262.3(GFER):c.575A>G (p.Asp192Gly)	rs1363034255	0.00001
NM_005262.3(GFER):c.259-25_259-24del	rs1597063303
NM_005262.3(GFER):c.280G>A (p.Asp94Asn)	rs1490540568
NM_005262.3(GFER):c.352C>A (p.Pro118Thr)

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