List of variants in gene LAMA2 reported as pathogenic by Mendelics

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter)	rs145420388	0.00003
NM_000426.4(LAMA2):c.5234+1G>A	rs781376927	0.00001
NM_000426.4(LAMA2):c.8244+1G>A	rs749522728	0.00001
NM_000426.4(LAMA2):c.1255del (p.Ile419fs)	rs1185229314
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs)	rs746844753
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)	rs202247790
NM_000426.4(LAMA2):c.3329del (p.Leu1110fs)	rs1583470073
NM_000426.4(LAMA2):c.3562_3563del (p.Leu1188fs)	rs1583475938
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter)	rs1180309541
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs)	rs1392196900
NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter)	rs748541803
NM_000426.4(LAMA2):c.5290dup (p.Glu1764fs)	rs1415944134
NM_000426.4(LAMA2):c.8613dup (p.Ser2872fs)	rs2114900655
NM_000426.4(LAMA2):c.8714_8715insGTGACG (p.Ser2905delinsArgTer)	rs2114910650

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