ClinVar Miner

List of variants studied for Familial aplasia of the vermis by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr) rs753709447 0.00002
NM_018718.3(CEP41):c.678C>T (p.Asp226=) rs545406161 0.00001
NM_001384732.1(CPLANE1):c.5738-2A>G rs565629362
NM_019892.6(INPP5E):c.1034+3A>T rs1564433976

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