ClinVar Miner

List of variants studied for Cenani-Lenz syndactyly syndrome by Genome-Nilou Lab

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002334.4(LRP4):c.1623T>C (p.Asp541=) rs10769215 0.99630
NM_002334.4(LRP4):c.1638A>G (p.Lys546=) rs10838631 0.98127
NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val) rs6485702 0.50674
NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly) rs2306029 0.42236
NM_002334.4(LRP4):c.1309+24G>A rs3751097 0.08895
NM_002334.4(LRP4):c.3536+22C>A rs964551
NM_002334.4(LRP4):c.3700-21C>G rs2306032
NM_002334.4(LRP4):c.4937G>A (p.Arg1646Gln) rs3816614

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