List of variants reported as pathogenic for Cenani-Lenz syndactyly syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_002334.4(LRP4):c.316+1G>A	rs780336679	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.4400dup (p.Asn1467fs)

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