ClinVar Miner

List of variants in gene FREM2 reported as likely pathogenic for Fraser syndrome 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.3661C>T (p.Pro1221Ser) rs143192660 0.00007
NM_207361.6(FREM2):c.5162dup (p.Phe1722fs) rs769926034 0.00004
NM_207361.6(FREM2):c.8176+2dup rs779126010 0.00001
NM_207361.6(FREM2):c.2533C>T (p.His845Tyr) rs1869732816
NM_207361.6(FREM2):c.3151C>T (p.Gln1051Ter) rs376122266
NM_207361.6(FREM2):c.4538A>G (p.Asp1513Gly) rs1869886793
NM_207361.6(FREM2):c.6680_6681dup (p.Phe2228fs)
NM_207361.6(FREM2):c.7546dup (p.Val2516fs)
NM_207361.6(FREM2):c.8376del (p.Val2793fs)

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