List of variants in gene LAMA1 reported as likely pathogenic for central nervous system malformation

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_005559.4(LAMA1):c.858+1G>T	rs141914419	0.00012
NM_005559.4(LAMA1):c.184C>T (p.Arg62Ter)	rs758223206	0.00001
NM_005559.4(LAMA1):c.767G>A (p.Arg256His)	rs748576952	0.00001
NM_005559.4(LAMA1):c.281A>G (p.Gln94Arg)	rs2143782472
NM_005559.4(LAMA1):c.2935del (p.Arg979fs)	rs758601967
NM_005559.4(LAMA1):c.4715del (p.Gly1572fs)
NM_005559.4(LAMA1):c.4763del (p.Tyr1588fs)
NM_005559.4(LAMA1):c.5108dup (p.Glu1704fs)
NM_005559.4(LAMA1):c.5467C>T (p.Gln1823Ter)	rs2057730983
NM_005559.4(LAMA1):c.7009dup (p.Ser2337fs)	rs2144018381
NM_005559.4(LAMA1):c.7195+2T>A
NM_005559.4(LAMA1):c.7452+1G>A
NM_005559.4(LAMA1):c.8208_8214delinsT (p.Lys2736_Ser2738delinsAsn)	rs2057544094
NM_005559.4(LAMA1):c.8668C>T (p.Gln2890Ter)	rs2143969631
NM_005559.4(LAMA1):c.8761C>T (p.Arg2921Ter)	rs1480105908
NM_005559.4(LAMA1):c.876_882delinsCATTTA (p.Glu293fs)	rs2058035458
NM_005559.4(LAMA1):c.9197del (p.Phe3066fs)	rs1555640521

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