ClinVar Miner

List of variants in gene COL11A2 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 10
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HGVS dbSNP
NM_080679.2(COL11A2):c.1042C>T (p.Arg348Trp) rs144862714
NM_080679.2(COL11A2):c.1540C>A (p.Pro514Thr) rs121912952
NM_080679.2(COL11A2):c.1558C>T (p.Arg520Ter) rs374156844
NM_080679.2(COL11A2):c.2440C>T (p.Pro814Ser) rs1416503874
NM_080679.2(COL11A2):c.2797C>G (p.Pro933Ala) rs759919085
NM_080679.2(COL11A2):c.3899del (p.Lys1300fs) rs1562312539
NM_080679.2(COL11A2):c.4679G>A (p.Arg1560His) rs146555195
NM_080679.2(COL11A2):c.706C>T (p.Pro236Ser) rs35116188
NM_080679.2(COL11A2):c.798+1636G>A rs750173113
NM_080679.2(COL11A2):c.798+2345C>T rs1554223504

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