List of variants in gene GLDN reported as likely pathogenic for lethal congenital contracture 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_181789.4(GLDN):c.1178G>A (p.Arg393Lys)	rs147954907	0.00006
NM_181789.4(GLDN):c.95C>A (p.Ala32Glu)	rs779432560	0.00006
NM_181789.4(GLDN):c.82G>C (p.Ala28Pro)	rs1016861963	0.00001
NM_181789.4(GLDN):c.1028-2A>T	rs2038250738
NM_181789.4(GLDN):c.1143_1144del (p.Tyr382fs)
NM_181789.4(GLDN):c.1282G>C (p.Ala428Pro)
NM_181789.4(GLDN):c.1347dup (p.Ala450fs)
NM_181789.4(GLDN):c.1423G>C (p.Ala475Pro)	rs764239923
NM_181789.4(GLDN):c.1435C>T (p.Arg479Ter)	rs368085516
NM_181789.4(GLDN):c.1507C>T (p.Gln503Ter)
NM_181789.4(GLDN):c.1525_1529del (p.Asp509fs)
NM_181789.4(GLDN):c.385_392del (p.Cys129fs)	rs2037658180
NM_181789.4(GLDN):c.59T>C (p.Leu20Pro)	rs1595795307
NM_181789.4(GLDN):c.817+1G>A
NM_181789.4(GLDN):c.86T>C (p.Leu29Pro)	rs1595795343

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