ClinVar Miner

List of variants reported as pathogenic for Fraser syndrome 2 by OMIM

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Total variants: 4
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NM_207361.6(FREM2):c.15del (p.Thr6fs)
NM_207361.6(FREM2):c.5920G>A (p.Glu1974Lys) rs121434355
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp) rs114837786
NM_207361.6(FREM2):c.7519+1G>A rs1566169711

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