ClinVar Miner

List of variants in gene IVD reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_002225.5(IVD):c.550+57A>G rs4924466 0.96250
NM_002225.5(IVD):c.234+14T>C rs2289331 0.62561
NM_002225.5(IVD):c.723C>T (p.Asp241=) rs2229312 0.11757
NM_002225.5(IVD):c.88C>T (p.His30Tyr) rs73383128 0.00938
NM_002225.5(IVD):c.11C>T (p.Ala4Val) rs148189323 0.00157
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889 0.00077
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412 0.00069
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835 0.00013
NM_002225.5(IVD):c.1183C>G (p.Arg395Gly) rs398123681 0.00003
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln) rs139908696 0.00001
NM_002225.5(IVD):c.1108C>T (p.Gln370Ter) rs368705240 0.00001
NM_002225.5(IVD):c.1132T>C (p.Cys378Arg) rs398123680 0.00001
NM_002225.5(IVD):c.397_398del (p.Cys133fs) rs398123682 0.00001
NM_002225.5(IVD):c.456+2T>C rs398123683 0.00001
NM_002225.5(IVD):c.456G>A (p.Lys152=) rs886044117 0.00001
NM_002225.5(IVD):c.498del (p.Glu166fs) rs398123684 0.00001
NM_002225.5(IVD):c.726G>C (p.Lys242Asn) rs794727857 0.00001
NM_002225.5(IVD):c.784+1G>A rs763471771 0.00001
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn) rs398123679
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002225.5(IVD):c.650del (p.Pro217fs) rs1364046355
NM_002225.5(IVD):c.785-20A>G rs727503970
NM_002225.5(IVD):c.863C>T (p.Ala288Val) rs886042098

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