List of variants in gene LRP4 reported as pathogenic for congenital myasthenic syndrome 17

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_002334.4(LRP4):c.316+1G>A	rs780336679	0.00001
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His)	rs746136135	0.00001
NM_002334.4(LRP4):c.1123_1126dup (p.Val376fs)
NM_002334.4(LRP4):c.1850del (p.Ala617fs)
NM_002334.4(LRP4):c.2260C>T (p.Arg754Ter)	rs1565790767
NM_002334.4(LRP4):c.2498del (p.Thr833fs)
NM_002334.4(LRP4):c.2830C>T (p.Gln944Ter)	rs1218582533
NM_002334.4(LRP4):c.2866G>T (p.Glu956Ter)	rs1565785959
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys)	rs786205153
NM_002334.4(LRP4):c.4400dup (p.Asn1467fs)

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