List of variants in gene LAMA3, LOC126862707 studied for Laryngo-onycho-cutaneous syndrome

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_198129.4(LAMA3):c.4998+1367G>A	rs199639611	0.00192
NM_000227.6(LAMA3):c.110T>G (p.Phe37Cys)	rs138914132	0.00126
NM_000227.6(LAMA3):c.30C>T (p.Cys10=)	rs145044428	0.00090
NM_000227.6(LAMA3):c.128A>C (p.Gln43Pro)	rs760019923	0.00005
NM_000227.6(LAMA3):c.71A>G (p.Gln24Arg)	rs1349909774	0.00002
NM_000227.6(LAMA3):c.151dup (p.Val51fs)	rs80356678
NM_000227.6(LAMA3):c.169C>T (p.Gln57Ter)
NM_000227.6(LAMA3):c.19C>T (p.Arg7Trp)	rs139495056
NM_000227.6(LAMA3):c.47G>A (p.Trp16Ter)
NM_000227.6(LAMA3):c.50T>A (p.Ile17Asn)	rs1052659025

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