List of variants reported as pathogenic for Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_002334.4(LRP4):c.316+1G>A	rs780336679	0.00002
NM_002334.4(LRP4):c.1123_1126dup (p.Val376fs)	rs758169152
NM_002334.4(LRP4):c.1850del (p.Ala617fs)	rs2539759435
NM_002334.4(LRP4):c.2260C>T (p.Arg754Ter)	rs1565790767
NM_002334.4(LRP4):c.2498del (p.Thr833fs)	rs2539749999
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.3898C>T (p.Gln1300Ter)
NM_002334.4(LRP4):c.4400dup (p.Asn1467fs)	rs2539723743
NM_002334.4(LRP4):c.5215del (p.Val1739fs)

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