ClinVar Miner

List of variants in gene IVD reported as likely pathogenic for not provided

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563 0.00010
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 0.00004
NM_002225.5(IVD):c.1132T>C (p.Cys378Arg) rs398123680 0.00001
NM_002225.5(IVD):c.286+5G>T rs878909737 0.00001
NM_002225.5(IVD):c.337G>C (p.Glu113Gln) rs1232893657 0.00001
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.1A>C (p.Met1Leu) rs757261752
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002225.5(IVD):c.466G>A (p.Gly156Ser) rs1555404010
NM_002225.5(IVD):c.581T>A (p.Phe194Tyr) rs1057524715
NM_002225.5(IVD):c.863C>T (p.Ala288Val) rs886042098

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