ClinVar Miner

List of variants studied for Macrocephaly, macrosomia, facial dysmorphism syndrome

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_032322.4(RNF135):c.857G>A (p.Arg286His) rs121918162 0.00011
NM_032322.4(RNF135):c.727C>T (p.Gln243Ter) rs121918161 0.00003
NM_032322.4(RNF135):c.1015del (p.Val339fs) rs724159978
NM_032322.4(RNF135):c.742del (p.Leu248fs) rs724159977
Single allele

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