ClinVar Miner

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

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Gene type:
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001006658.3(CR2):c.2611G>T (p.Val871Leu) rs144572703 0.00319
NM_001006658.3(CR2):c.2352T>C (p.Ile784=) rs142319454 0.00170
NM_001006658.3(CR2):c.1458T>C (p.Phe486=) rs147378770 0.00115
NM_001006658.3(CR2):c.2628T>G (p.Asn876Lys) rs138979306 0.00113
NM_001006658.3(CR2):c.2844G>A (p.Glu948=) rs61754518 0.00098
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.2747C>T (p.Thr916Ile) rs61754517 0.00033
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.276T>G (p.Pro92=) rs371546344 0.00006
NM_001006658.3(CR2):c.21C>T (p.Leu7=) rs779365020 0.00005
NM_001006658.3(CR2):c.621C>T (p.Pro207=) rs573346582 0.00003
NM_001006658.3(CR2):c.697C>T (p.Arg233Trp) rs755984980 0.00002
NM_001006658.3(CR2):c.3261A>G (p.Pro1087=) rs374978382 0.00001
NM_001006658.3(CR2):c.634+1G>A rs370988625 0.00001
NM_001006658.3(CR2):c.1414G>A (p.Glu472Lys) rs1558191644
NM_001006658.3(CR2):c.1673C>A (p.Pro558His)
NM_001006658.3(CR2):c.2225C>T (p.Thr742Met)
NM_001006658.3(CR2):c.2300T>C (p.Phe767Ser)
NM_001006658.3(CR2):c.2618T>C (p.Val873Ala)
NM_001006658.3(CR2):c.2753A>G (p.Asn918Ser) rs1553280774
NM_001006658.3(CR2):c.3068C>A (p.Pro1023His)
NM_001006658.3(CR2):c.445+7A>G rs1658117909
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001006658.3(CR2):c.624C>A (p.Pro208=) rs61759494
NM_001006658.3(CR2):c.624C>G (p.Pro208=) rs61759494
NM_001006658.3(CR2):c.718T>A (p.Phe240Ile) rs1180205998
NM_001006658.3(CR2):c.9C>T (p.Ala3=)

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