ClinVar Miner

List of variants studied for Fraser syndrome 2 by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_207361.6(FREM2):c.5162dup (p.Phe1722fs) rs769926034 0.00004
NM_207361.6(FREM2):c.750_751dup (p.Thr251fs) rs1869579851

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