ClinVar Miner

List of variants in gene COL11A2 reported as uncertain significance for Weissenbacher-Zweymuller syndrome

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Total variants: 23
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HGVS dbSNP
NM_080679.2(COL11A2):c.*248C>A rs886061314
NM_080679.2(COL11A2):c.*439C>A rs886061313
NM_080679.2(COL11A2):c.*536C>T rs886061312
NM_080679.2(COL11A2):c.*544C>G rs199956729
NM_080679.2(COL11A2):c.-226C>T rs886061320
NM_080679.2(COL11A2):c.-92A>G rs886061319
NM_080679.2(COL11A2):c.1733G>C (p.Gly578Ala) rs757431548
NM_080679.2(COL11A2):c.1950C>T (p.Gly650=) rs745568808
NM_080679.2(COL11A2):c.2095C>T (p.Arg699Cys) rs376355040
NM_080679.2(COL11A2):c.2527C>T (p.Pro843Ser) rs768902062
NM_080679.2(COL11A2):c.2946G>A (p.Val982=) rs781462105
NM_080679.2(COL11A2):c.3049G>A (p.Ala1017Thr) rs886061316
NM_080679.2(COL11A2):c.3333A>G (p.Ser1111=) rs146962984
NM_080679.2(COL11A2):c.3529C>T (p.Arg1177Trp) rs886061315
NM_080679.2(COL11A2):c.3562G>A (p.Glu1188Lys) rs758507327
NM_080679.2(COL11A2):c.3611A>G (p.Asn1204Ser) rs727504460
NM_080679.2(COL11A2):c.4354C>T (p.Arg1452Trp) rs370966667
NM_080679.2(COL11A2):c.4533C>G (p.Asp1511Glu) rs151319255
NM_080679.2(COL11A2):c.453T>C (p.Arg151=) rs147115504
NM_080679.2(COL11A2):c.4630G>A (p.Val1544Ile) rs766589324
NM_080679.2(COL11A2):c.798+1635G>C rs886061317
NM_080679.2(COL11A2):c.798+880C>A rs886061318
NM_080679.2(COL11A2):c.857C>T (p.Pro286Leu) rs140266192

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