ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_002334.4(LRP4):c.941T>C (p.Leu314Ser) rs7926667 0.05542
NM_002334.4(LRP4):c.1695G>A (p.Glu565=) rs61741501 0.05533
NM_002334.4(LRP4):c.813G>A (p.Thr271=) rs879721 0.05245
NM_002334.4(LRP4):c.129C>G (p.Thr43=) rs61742974 0.04439
NM_002334.4(LRP4):c.*261C>A rs77376145 0.03985
NM_002334.4(LRP4):c.1501A>C (p.Asn501His) rs72897663 0.03190
NM_002334.4(LRP4):c.4837+10C>T rs74806847 0.02807
NM_002334.4(LRP4):c.*1825_*1826del rs147363340 0.02795
NM_002334.4(LRP4):c.*929C>A rs79910473 0.02450
NM_002334.4(LRP4):c.3945G>A (p.Ser1315=) rs61733844 0.02133
NM_002334.4(LRP4):c.*2104C>G rs7928628 0.02130
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His) rs117936904 0.01806
NM_002334.4(LRP4):c.1117C>T (p.Arg373Trp) rs118009068 0.01699
NM_002334.4(LRP4):c.997G>A (p.Gly333Arg) rs61744209 0.00677
NM_002334.4(LRP4):c.*2054C>T rs151112380 0.00152
NM_002334.4(LRP4):c.4674C>T (p.His1558=) rs61742905 0.00127
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597 0.00111
NM_002334.4(LRP4):c.431-8C>T rs150531536 0.00003

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