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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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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.3151C>T (p.Gln1051Ter)	rs376122266	0.00001
NM_207361.6(FREM2):c.2303C>G (p.Ser768Ter)	rs2138066721
NM_207361.6(FREM2):c.2533C>T (p.His845Tyr)	rs1869732816
NM_207361.6(FREM2):c.4538A>G (p.Asp1513Gly)	rs1869886793
NM_207361.6(FREM2):c.6680_6681dup (p.Phe2228fs)	rs2541488826
NM_207361.6(FREM2):c.7546dup (p.Val2516fs)	rs2541497277
NM_207361.6(FREM2):c.8376del (p.Val2793fs)	rs2541507235

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