ClinVar Miner

List of variants reported as likely pathogenic for Fraser syndrome 1

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Total variants: 8
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HGVS dbSNP
NM_025074.7(FRAS1):c.11445+5_11445+11delinsC
NM_025074.7(FRAS1):c.1226dup (p.Gln411fs)
NM_025074.7(FRAS1):c.2869+1G>A
NM_025074.7(FRAS1):c.2894G>T (p.Cys965Phe) rs1325190118
NM_025074.7(FRAS1):c.5370C>G (p.Tyr1790Ter) rs757311669
NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter)
NM_025074.7(FRAS1):c.8604+5G>A
NM_207361.6(FREM2):c.6350_6351del (p.Thr2117fs) rs752032044

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