ClinVar Miner

List of variants in gene CR2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu) rs143614333 0.00058
NM_001006658.3(CR2):c.3047C>T (p.Ser1016Leu) rs138062179 0.00034
NM_001006658.3(CR2):c.1931G>A (p.Cys644Tyr) rs149972318 0.00023
NM_001006658.3(CR2):c.3033G>C (p.Gln1011His) rs200182370 0.00021
NM_001006658.3(CR2):c.419C>T (p.Pro140Leu) rs563764676 0.00008
NM_001006658.3(CR2):c.697C>T (p.Arg233Trp) rs755984980 0.00002
NM_001006658.3(CR2):c.1414G>A (p.Glu472Lys) rs1558191644
NM_001006658.3(CR2):c.1673C>A (p.Pro558His)
NM_001006658.3(CR2):c.2618T>C (p.Val873Ala)
NM_001006658.3(CR2):c.2753A>G (p.Asn918Ser) rs1553280774
NM_001006658.3(CR2):c.445+7A>G rs1658117909
NM_001006658.3(CR2):c.718T>A (p.Phe240Ile) rs1180205998

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