ClinVar Miner

List of variants studied for Fraser syndrome 2 by Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.1266del (p.Asp423fs) rs1869623039
NM_207361.6(FREM2):c.1930C>T (p.Gln644Ter) rs1869683236
NM_207361.6(FREM2):c.399del (p.Gly134fs) rs1869545423
NM_207361.6(FREM2):c.4538A>G (p.Asp1513Gly) rs1869886793
NM_207361.6(FREM2):c.6186_6188delinsAATTACAGAA (p.Gly2063fs) rs1877244252

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