ClinVar Miner

List of variants reported as benign for Cenani-Lenz syndactyly syndrome by Illumina Laboratory Services, Illumina

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Total variants: 22
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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.*561T>C rs3829940 0.64017
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_002334.3(LRP4):c.-188C>T rs111383894 0.14671
NM_002334.4(LRP4):c.4905C>T (p.Phe1635=) rs2290883 0.12958
NM_002334.4(LRP4):c.3608C>T (p.Ala1203Val) rs2306033 0.12951
NM_002334.3(LRP4):c.-237G>C rs565737367 0.04762
NM_002334.4(LRP4):c.431-12G>A rs139371503 0.01289
NM_002334.4(LRP4):c.*1445A>G rs75558883 0.01226
NM_002334.4(LRP4):c.5010G>A (p.Val1670=) rs111426027 0.00936
NM_002334.4(LRP4):c.*54G>A rs147627264 0.00852
NM_002334.4(LRP4):c.*1017C>T rs10838623 0.00823
NM_002334.4(LRP4):c.300G>A (p.Ser100=) rs61745166 0.00459
NM_002334.4(LRP4):c.1494C>T (p.Asn498=) rs61749083 0.00221
NM_002334.4(LRP4):c.*1151C>T rs116705878 0.00213
NM_002334.4(LRP4):c.*1627A>G rs544836196 0.00160
NM_002334.4(LRP4):c.*2080T>C rs76159791 0.00028
NM_002334.4(LRP4):c.*2252G>A rs188545674 0.00016
NM_002334.4(LRP4):c.1365A>G (p.Pro455=) rs143481229 0.00001
NM_002334.4(LRP4):c.4937G>A (p.Arg1646Gln) rs3816614

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