ClinVar Miner

List of variants in gene CD46 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_172351.3(CD46):c.796G>A (p.Asp266Asn) rs17006830 0.00369
NM_172351.3(CD46):c.926C>T (p.Pro309Leu) rs41317833 0.00241
NM_172351.3(CD46):c.261A>G (p.Leu87=) rs115385712 0.00008
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_172351.3(CD46):c.535G>C (p.Glu179Gln) rs779174212 0.00002
NM_172351.3(CD46):c.118A>G (p.Thr40Ala) rs753924720 0.00001
NM_172351.3(CD46):c.286+27del rs371729129
NM_172351.3(CD46):c.476-6_476-5delinsG rs1656165500
NM_172351.3(CD46):c.714_715del (p.Gln238fs) rs1571616755

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