ClinVar Miner

List of variants in gene COL11A1 reported as likely pathogenic

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Gene type:
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Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.1245+1G>A rs766849561 0.00005
NM_001854.4(COL11A1):c.1003G>T (p.Glu335Ter) rs776004614 0.00001
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu) rs372419698 0.00001
NM_001854.4(COL11A1):c.2608C>T (p.Arg870Trp) rs778379327 0.00001
NC_000001.10:g.(?_103380260)_(103548528_?)del
NC_000001.10:g.(?_103540154)_(103540356_?)dup
NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter) rs1667208458
NM_001854.4(COL11A1):c.1190dup (p.Pro397_Asn398insTer) rs1343199316
NM_001854.4(COL11A1):c.1350+1G>A rs2101919778
NM_001854.4(COL11A1):c.1473_1475inv (p.Met492Ter)
NM_001854.4(COL11A1):c.1572+1G>C rs2101899230
NM_001854.4(COL11A1):c.1573-1G>T rs2101890748
NM_001854.4(COL11A1):c.1629+1G>A rs1553234339
NM_001854.4(COL11A1):c.1629+2T>C rs2101890460
NM_001854.4(COL11A1):c.162del (p.Ser55fs) rs1571238944
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_001854.4(COL11A1):c.1676G>A (p.Gly559Asp)
NM_001854.4(COL11A1):c.1682A>C (p.Gln561Pro)
NM_001854.4(COL11A1):c.1684-1G>C rs1665610030
NM_001854.4(COL11A1):c.1791+1G>T rs2101852537
NM_001854.4(COL11A1):c.1862_1870del (p.Gln621_Pro623del) rs1557932876
NM_001854.4(COL11A1):c.1900-1G>A
NM_001854.4(COL11A1):c.1945-2A>G
NM_001854.4(COL11A1):c.194_197del (p.Lys65fs) rs2102324115
NM_001854.4(COL11A1):c.2098-2A>C
NM_001854.4(COL11A1):c.2142+2T>C
NM_001854.4(COL11A1):c.2241+1G>C
NM_001854.4(COL11A1):c.2241+5G>T rs2101800665
NM_001854.4(COL11A1):c.2287G>T (p.Gly763Ter) rs2101794024
NM_001854.4(COL11A1):c.2295+1G>C rs1664585937
NM_001854.4(COL11A1):c.2369G>A (p.Gly790Asp) rs886044242
NM_001854.4(COL11A1):c.2386G>C (p.Gly796Arg) rs2101750154
NM_001854.4(COL11A1):c.2485_2486insAAG (p.Ser828_Gly829insGlu) rs1553227204
NM_001854.4(COL11A1):c.2508dup (p.Leu837fs) rs1663313424
NM_001854.4(COL11A1):c.2522G>T (p.Gly841Val) rs1663311706
NM_001854.4(COL11A1):c.2702G>A (p.Gly901Glu)
NM_001854.4(COL11A1):c.2709+1G>A
NM_001854.4(COL11A1):c.2752A>G (p.Arg918Gly) rs2101678782
NM_001854.4(COL11A1):c.2754+5G>A rs1057518666
NM_001854.4(COL11A1):c.2755-2A>G rs2101653580
NM_001854.4(COL11A1):c.2792G>A (p.Gly931Glu) rs1557891760
NM_001854.4(COL11A1):c.2862+2T>A rs2101625861
NM_001854.4(COL11A1):c.2862+2T>C
NM_001854.4(COL11A1):c.2916+1G>A rs2101595036
NM_001854.4(COL11A1):c.2972G>A (p.Gly991Asp) rs1557877041
NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser) rs764282256
NM_001854.4(COL11A1):c.3168+1G>A rs886042653
NM_001854.4(COL11A1):c.3169-2A>G
NM_001854.4(COL11A1):c.3276+1G>C rs2101406339
NM_001854.4(COL11A1):c.3276+1_3276+2insGACA
NM_001854.4(COL11A1):c.3276+5G>A rs2101406246
NM_001854.4(COL11A1):c.3278G>C (p.Gly1093Ala) rs1477374848
NM_001854.4(COL11A1):c.3385-2A>C
NM_001854.4(COL11A1):c.3438+2T>C
NM_001854.4(COL11A1):c.3438+2T>G rs2101282041
NM_001854.4(COL11A1):c.3438+2_3438+3del rs1557847904
NM_001854.4(COL11A1):c.3492+1_3492+3del
NM_001854.4(COL11A1):c.3512G>A (p.Gly1171Asp)
NM_001854.4(COL11A1):c.3600+1G>A rs2101213034
NM_001854.4(COL11A1):c.3600+2T>C
NM_001854.4(COL11A1):c.3601-2A>G
NM_001854.4(COL11A1):c.3601-2A>T
NM_001854.4(COL11A1):c.3627_3635del (p.Lys1209_Glu1211del)
NM_001854.4(COL11A1):c.3647G>A (p.Gly1216Asp) rs1570740272
NM_001854.4(COL11A1):c.3655-1G>C rs2101074856
NM_001854.4(COL11A1):c.3655-2A>G
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val) rs750291363
NM_001854.4(COL11A1):c.3708+2T>C rs2101074452
NM_001854.4(COL11A1):c.3717del (p.Gly1240fs) rs2101066868
NM_001854.4(COL11A1):c.3762+2T>C
NM_001854.4(COL11A1):c.3810_3816+2del
NM_001854.4(COL11A1):c.3816+5G>A rs1057524237
NM_001854.4(COL11A1):c.3883_3892del (p.Ala1295fs)
NM_001854.4(COL11A1):c.3925-2A>G
NM_001854.4(COL11A1):c.3978+1G>C rs1570712889
NM_001854.4(COL11A1):c.3978+2T>G rs1570712875
NM_001854.4(COL11A1):c.3998_4009del (p.Gly1333_Gly1336del) rs886042660
NM_001854.4(COL11A1):c.4002_4010del (p.Asp1334_Gly1336del) rs2101026073
NM_001854.4(COL11A1):c.4033-1G>C rs2101017052
NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del) rs1553200431
NM_001854.4(COL11A1):c.4140+3A>T rs1553196515
NM_001854.4(COL11A1):c.4141-2del
NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys) rs763199410
NM_001854.4(COL11A1):c.4302+2T>C rs1553196233
NM_001854.4(COL11A1):c.4303-1G>C
NM_001854.4(COL11A1):c.4323_4340del (p.Leu1442_Gly1447del)
NM_001854.4(COL11A1):c.4356+2T>C rs2100864027
NM_001854.4(COL11A1):c.4357G>C (p.Gly1453Arg)
NM_001854.4(COL11A1):c.4518+1G>A
NM_001854.4(COL11A1):c.4537G>A (p.Gly1513Ser)
NM_001854.4(COL11A1):c.4538G>A (p.Gly1513Asp) rs1553193913
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910
NM_001854.4(COL11A1):c.4554+1G>C rs886044244
NM_001854.4(COL11A1):c.4565G>T (p.Gly1522Val) rs1651323625
NM_001854.4(COL11A1):c.4592G>C (p.Gly1531Ala) rs2100851333
NM_001854.4(COL11A1):c.4660dup (p.Thr1554fs) rs1570630126
NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg) rs1672165764
NM_001854.4(COL11A1):c.652-1G>C rs1064797115
NM_001854.4(COL11A1):c.780+1G>T
NM_001854.4(COL11A1):c.867del (p.Thr289_Val290insTer) rs1571079651
NM_001854.4(COL11A1):c.990+1G>T

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