List of variants reported as pathogenic for Fraser syndrome 2

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_207361.6(FREM2):c.5162dup (p.Phe1722fs)	rs769926034	0.00004
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp)	rs114837786	0.00003
NM_207361.6(FREM2):c.5920G>A (p.Glu1974Lys)	rs121434355	0.00001
NM_207361.6(FREM2):c.1266del (p.Asp423fs)	rs1869623039
NM_207361.6(FREM2):c.15del (p.Thr6fs)	rs1869502750
NM_207361.6(FREM2):c.1930C>T (p.Gln644Ter)	rs1869683236
NM_207361.6(FREM2):c.2303C>G (p.Ser768Ter)	rs2138066721
NM_207361.6(FREM2):c.2689C>T (p.Gln897Ter)
NM_207361.6(FREM2):c.3103_3104del (p.Leu1036fs)	rs1555261304
NM_207361.6(FREM2):c.3890del (p.Ile1297fs)	rs776269575
NM_207361.6(FREM2):c.399del (p.Gly134fs)	rs1869545423
NM_207361.6(FREM2):c.6186_6188delinsAATTACAGAA (p.Gly2063fs)	rs1877244252
NM_207361.6(FREM2):c.750_751dup (p.Thr251fs)	rs1869579851
NM_207361.6(FREM2):c.7519+1G>A	rs1566169711

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