ClinVar Miner

List of variants in gene COL11A2 reported as uncertain significance for Fibrochondrogenesis

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Total variants: 23
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HGVS dbSNP
NM_080680.2(COL11A2):c.*248C>A rs886061314
NM_080680.2(COL11A2):c.*439C>A rs886061313
NM_080680.2(COL11A2):c.*536C>T rs886061312
NM_080680.2(COL11A2):c.*544C>G rs199956729
NM_080680.2(COL11A2):c.-226C>T rs886061320
NM_080680.2(COL11A2):c.-92A>G rs886061319
NM_080680.2(COL11A2):c.1178C>T (p.Pro393Leu) rs140266192
NM_080680.2(COL11A2):c.2054G>C (p.Gly685Ala) rs757431548
NM_080680.2(COL11A2):c.2271C>T (p.Gly757=) rs745568808
NM_080680.2(COL11A2):c.2416C>T (p.Arg806Cys) rs376355040
NM_080680.2(COL11A2):c.2848C>T (p.Pro950Ser) rs768902062
NM_080680.2(COL11A2):c.3267G>A (p.Val1089=) rs781462105
NM_080680.2(COL11A2):c.3370G>A (p.Ala1124Thr) rs886061316
NM_080680.2(COL11A2):c.3654A>G (p.Ser1218=) rs146962984
NM_080680.2(COL11A2):c.3850C>T (p.Arg1284Trp) rs886061315
NM_080680.2(COL11A2):c.3883G>A (p.Glu1295Lys) rs758507327
NM_080680.2(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460
NM_080680.2(COL11A2):c.453T>C (p.Arg151=) rs147115504
NM_080680.2(COL11A2):c.4675C>T (p.Arg1559Trp) rs370966667
NM_080680.2(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255
NM_080680.2(COL11A2):c.4951G>A (p.Val1651Ile) rs766589324
NM_080680.2(COL11A2):c.830C>A (p.Pro277His) rs886061318
NM_080680.2(COL11A2):c.939G>C (p.Glu313Asp) rs886061317

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