List of variants in gene combination LAMA3, LOC126862707 reported as pathogenic for Laryngo-onycho-cutaneous 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_000227.6(LAMA3):c.151dup (p.Val51fs)	rs80356678
NM_000227.6(LAMA3):c.169C>T (p.Gln57Ter)
NM_000227.6(LAMA3):c.47G>A (p.Trp16Ter)
NM_000227.6(LAMA3):c.50T>A (p.Ile17Asn)	rs1052659025

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