ClinVar Miner

List of variants in gene IVD reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
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.229C>T (p.Leu77=) rs143807229 0.00032
NM_002225.5(IVD):c.903C>T (p.His301=) rs759116078 0.00007
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys) rs371427844 0.00004
NM_002225.5(IVD):c.540G>A (p.Ala180=) rs775944806 0.00002
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.456+2T>C rs398123683 0.00001
NM_002225.5(IVD):c.1083del (p.Leu362fs)
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.379G>C (p.Gly127Arg) rs754570116
NM_002225.5(IVD):c.456+26G>A
NM_002225.5(IVD):c.863C>T (p.Ala288Val) rs886042098

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