ClinVar Miner

List of variants in gene COL11A2 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter) rs911722283 0.00002
NM_080680.3(COL11A2):c.2554C>T (p.Arg852Ter) rs1387164225 0.00001
NM_080680.3(COL11A2):c.272G>A (p.Arg91Gln) rs763766268 0.00001
NM_080680.3(COL11A2):c.3958C>T (p.Arg1320Ter) rs1206475365 0.00001
NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter) rs121912951 0.00001
NM_080680.3(COL11A2):c.4392+1G>A rs750995470 0.00001
NM_080680.3(COL11A2):c.1019dup (p.Pro340_Glu341insTer)
NM_080680.3(COL11A2):c.1020del (p.Glu341fs)
NM_080680.3(COL11A2):c.1076_1077del (p.Glu359fs)
NM_080680.3(COL11A2):c.109G>T (p.Ala37Ser) rs606231410
NM_080680.3(COL11A2):c.1135C>T (p.Arg379Ter) rs1417182811
NM_080680.3(COL11A2):c.1218_1221dup (p.Gly408fs)
NM_080680.3(COL11A2):c.1297C>T (p.Arg433Ter)
NM_080680.3(COL11A2):c.1586del (p.Gly529fs)
NM_080680.3(COL11A2):c.1606C>T (p.Arg536Ter)
NM_080680.3(COL11A2):c.1636C>T (p.Arg546Ter) rs149697159
NM_080680.3(COL11A2):c.1672C>T (p.Arg558Ter)
NM_080680.3(COL11A2):c.170_171del (p.Asp57fs)
NM_080680.3(COL11A2):c.171dup (p.Val58fs)
NM_080680.3(COL11A2):c.1755del (p.Gly586fs)
NM_080680.3(COL11A2):c.181C>T (p.Arg61Ter)
NM_080680.3(COL11A2):c.1879C>T (p.Arg627Ter) rs374156844
NM_080680.3(COL11A2):c.190C>T (p.Arg64Ter) rs1554226209
NM_080680.3(COL11A2):c.1924C>T (p.Gln642Ter)
NM_080680.3(COL11A2):c.1928_1937del (p.Gly643fs)
NM_080680.3(COL11A2):c.1957del (p.Thr653fs) rs2150572816
NM_080680.3(COL11A2):c.1962del (p.Thr656fs)
NM_080680.3(COL11A2):c.1981G>A (p.Gly661Arg) rs121912945
NM_080680.3(COL11A2):c.2081_2085delinsA (p.Gly694fs) rs886044584
NM_080680.3(COL11A2):c.20_21del (p.Cys7fs)
NM_080680.3(COL11A2):c.2158C>T (p.Arg720Ter)
NM_080680.3(COL11A2):c.2194A>T (p.Lys732Ter)
NM_080680.3(COL11A2):c.2540del (p.Gly847fs) rs2150558601
NM_080680.3(COL11A2):c.2542C>T (p.Gln848Ter)
NM_080680.3(COL11A2):c.2597dup (p.Gly866_Asp867insTer)
NM_080680.3(COL11A2):c.2638G>T (p.Gly880Ter)
NM_080680.3(COL11A2):c.2658del (p.Pro888fs)
NM_080680.3(COL11A2):c.2690del (p.Pro897fs) rs2150555528
NM_080680.3(COL11A2):c.2762dup (p.Gly922fs)
NM_080680.3(COL11A2):c.2763del (p.Gly922fs)
NM_080680.3(COL11A2):c.2970_2971del (p.Gly991fs)
NM_080680.3(COL11A2):c.3032del (p.Pro1011fs) rs1363500354
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_080680.3(COL11A2):c.3133G>T (p.Gly1045Ter)
NM_080680.3(COL11A2):c.3150+5G>A
NM_080680.3(COL11A2):c.3181C>T (p.Arg1061Ter)
NM_080680.3(COL11A2):c.328C>T (p.Arg110Ter) rs903118000
NM_080680.3(COL11A2):c.3329dup (p.Gly1111fs)
NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg) rs550153707
NM_080680.3(COL11A2):c.339_340delinsG (p.Leu114fs) rs1554225999
NM_080680.3(COL11A2):c.3496G>T (p.Glu1166Ter) rs1448700521
NM_080680.3(COL11A2):c.352C>T (p.Arg118Ter)
NM_080680.3(COL11A2):c.3545del (p.Pro1182fs) rs766211536
NM_080680.3(COL11A2):c.3666del (p.Ile1223fs)
NM_080680.3(COL11A2):c.3833dup (p.Gly1279fs)
NM_080680.3(COL11A2):c.3877C>T (p.Arg1293Ter) rs746754428
NM_080680.3(COL11A2):c.3928del (p.Glu1310fs)
NM_080680.3(COL11A2):c.4123-1G>T rs2150524851
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter) rs121912950
NM_080680.3(COL11A2):c.4204_4205insC (p.Gly1402fs)
NM_080680.3(COL11A2):c.4205_4208del (p.Gly1402fs)
NM_080680.3(COL11A2):c.4265dup (p.Gly1423_Glu1424insTer) rs1213117443
NM_080680.3(COL11A2):c.4323_4324delinsTT (p.Gln1442Ter)
NM_080680.3(COL11A2):c.4450G>T (p.Glu1484Ter)
NM_080680.3(COL11A2):c.4515dup (p.Ile1506fs)
NM_080680.3(COL11A2):c.4519C>T (p.Gln1507Ter) rs377656039
NM_080680.3(COL11A2):c.4649del (p.Leu1550fs)
NM_080680.3(COL11A2):c.470_471del (p.Lys157fs)
NM_080680.3(COL11A2):c.473dup (p.Gln159fs)
NM_080680.3(COL11A2):c.4758C>G (p.Tyr1586Ter)
NM_080680.3(COL11A2):c.4760G>A (p.Trp1587Ter)
NM_080680.3(COL11A2):c.4789del (p.Asp1597fs)
NM_080680.3(COL11A2):c.4798C>T (p.Arg1600Ter)
NM_080680.3(COL11A2):c.4811del (p.Asn1604fs)
NM_080680.3(COL11A2):c.508C>T (p.Arg170Ter)
NM_080680.3(COL11A2):c.519del (p.Pro174fs)
NM_080680.3(COL11A2):c.527_533dup (p.Ala179fs)
NM_080680.3(COL11A2):c.529C>T (p.Arg177Ter) rs764450149
NM_080680.3(COL11A2):c.660_661del (p.Ser220_Cys221insTer)
NM_080680.3(COL11A2):c.745C>T (p.Gln249Ter)
NM_080680.3(COL11A2):c.811_814del (p.Leu271fs)
NM_080680.3(COL11A2):c.813_814del (p.Tyr272fs)
NM_080680.3(COL11A2):c.834dup (p.Tyr279fs)
NM_080680.3(COL11A2):c.874C>T (p.Gln292Ter)
NM_080680.3(COL11A2):c.966del (p.Thr323fs)
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_080680.3(COL11A2):c.967dup (p.Thr323fs) rs774545390

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