ClinVar Miner

List of variants in gene FREM2 studied for Fraser syndrome 2

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Total variants: 10
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HGVS dbSNP
NM_172862.3:c.15del
NM_207361.6(FREM2):c.2608C>T (p.Gln870Ter) rs750020230
NM_207361.6(FREM2):c.3103_3104del (p.Leu1036fs) rs1555261304
NM_207361.6(FREM2):c.3890del (p.Ile1297fs) rs776269575
NM_207361.6(FREM2):c.38G>A (p.Arg13Gln) rs765718616
NM_207361.6(FREM2):c.5059G>T (p.Glu1687Ter) rs148965852
NM_207361.6(FREM2):c.5503G>A (p.Ala1835Thr) rs767743882
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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