List of variants in gene GLE1 reported as likely pathogenic for arthrogryposis 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001003722.2(GLE1):c.241C>T (p.Gln81Ter)	rs772765696	0.00004
NM_001003722.2(GLE1):c.397C>T (p.Arg133Ter)	rs374673335	0.00002
NM_001003722.2(GLE1):c.1021G>T (p.Glu341Ter)
NM_001003722.2(GLE1):c.1203_1204del (p.Leu402fs)	rs1026034826
NM_001003722.2(GLE1):c.266delinsAT (p.Pro89fs)
NM_001003722.2(GLE1):c.357_364del (p.Gln121fs)	rs1564145502
NM_001003722.2(GLE1):c.428del (p.Gly143fs)	rs2132430609
NM_001003722.2(GLE1):c.450G>A (p.Trp150Ter)
NM_001003722.2(GLE1):c.557_561dup (p.Arg188fs)
NM_001003722.2(GLE1):c.979C>T (p.Gln327Ter)

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