ClinVar Miner

List of variants reported as benign for Fraser syndrome 1 by Mendelics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001366722.1(GRIP1):c.2461C>G (p.Gln821Glu) rs13277 0.87545
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.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_025074.7(FRAS1):c.11445+68_11445+69del rs3062747

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