ClinVar Miner

List of variants studied for Fraser syndrome 2 by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp) rs114837786 0.00003
NM_207361.6(FREM2):c.15del (p.Thr6fs) rs1869502750
NM_207361.6(FREM2):c.5914G>A (p.Glu1972Lys) rs121434356
NM_207361.6(FREM2):c.7519+1G>A rs1566169711

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