ClinVar Miner

List of variants reported as benign for Fraser syndrome 2 by Genome-Nilou Lab

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.576G>A (p.Glu192=) rs1868464 0.99992
NM_207361.6(FREM2):c.5410+25T>C rs2442370 0.94938
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile) rs9548509 0.73365
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) rs2496425 0.43515
NM_207361.6(FREM2):c.7398A>G (p.Thr2466=) rs9532292 0.39041

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