ClinVar Miner

List of variants in gene COL11A1 studied for Inborn genetic diseases

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Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val) rs145901197 0.00274
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser) rs114630202 0.00174
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00036
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn) rs143663917 0.00029
NM_001854.4(COL11A1):c.1169A>G (p.Glu390Gly) rs139480042 0.00026
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207 0.00026
NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu) rs143531636 0.00023
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624 0.00019
NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser) rs145159429 0.00018
NM_001854.4(COL11A1):c.845A>G (p.Glu282Gly) rs199539580 0.00015
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala) rs55851925 0.00014
NM_001854.4(COL11A1):c.4270G>C (p.Ala1424Pro) rs371230505 0.00014
NM_001854.4(COL11A1):c.1504G>T (p.Asp502Tyr) rs1212773301 0.00012
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile) rs369925361 0.00012
NM_001854.4(COL11A1):c.2453G>A (p.Arg818Gln) rs142523692 0.00011
NM_001854.4(COL11A1):c.628A>G (p.Ile210Val) rs779282500 0.00010
NM_001854.4(COL11A1):c.4661C>T (p.Thr1554Met) rs759287748 0.00009
NM_001854.4(COL11A1):c.3967C>A (p.Pro1323Thr) rs377044024 0.00008
NM_001854.4(COL11A1):c.1690C>G (p.Arg564Gly) rs776268452 0.00007
NM_001854.4(COL11A1):c.1059A>T (p.Lys353Asn) rs572826781 0.00006
NM_001854.4(COL11A1):c.3136G>A (p.Gly1046Arg) rs760387652 0.00006
NM_001854.4(COL11A1):c.3358G>A (p.Gly1120Ser) rs370589018 0.00006
NM_001854.4(COL11A1):c.2168C>A (p.Ala723Asp) rs758354863 0.00005
NM_001854.4(COL11A1):c.4028A>C (p.Gln1343Pro) rs145997317 0.00005
NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro) rs775587076 0.00005
NM_001854.4(COL11A1):c.4508C>G (p.Pro1503Arg) rs528529875 0.00005
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys) rs749003514 0.00004
NM_001854.4(COL11A1):c.3227G>A (p.Arg1076His) rs148464130 0.00004
NM_001854.4(COL11A1):c.3595C>G (p.Leu1199Val) rs138507620 0.00004
NM_001854.4(COL11A1):c.35G>A (p.Arg12Gln) rs767496065 0.00003
NM_001854.4(COL11A1):c.3868G>T (p.Ala1290Ser) rs370988085 0.00003
NM_001854.4(COL11A1):c.5284G>A (p.Gly1762Ser) rs766529064 0.00003
NM_001854.4(COL11A1):c.602A>G (p.Asn201Ser) rs201647477 0.00003
NM_001854.4(COL11A1):c.611C>T (p.Thr204Met) rs199595073 0.00003
NM_001854.4(COL11A1):c.788C>T (p.Pro263Leu) rs945959591 0.00003
NM_001854.4(COL11A1):c.1051C>A (p.Gln351Lys) rs761451204 0.00002
NM_001854.4(COL11A1):c.2039A>G (p.Asn680Ser) rs375314757 0.00002
NM_001854.4(COL11A1):c.2780T>C (p.Val927Ala) rs776051361 0.00002
NM_001854.4(COL11A1):c.4067C>G (p.Pro1356Arg) rs986400534 0.00002
NM_001854.4(COL11A1):c.4213G>A (p.Gly1405Ser) rs376137502 0.00002
NM_001854.4(COL11A1):c.4249G>A (p.Gly1417Arg) rs752921387 0.00002
NM_001854.4(COL11A1):c.4336C>T (p.Pro1446Ser) rs975763978 0.00002
NM_001854.4(COL11A1):c.818A>G (p.Tyr273Cys) rs763484552 0.00002
NM_001854.4(COL11A1):c.1129G>T (p.Asp377Tyr) rs376421641 0.00001
NM_001854.4(COL11A1):c.1492C>T (p.Arg498Cys) rs1186482291 0.00001
NM_001854.4(COL11A1):c.1600A>G (p.Met534Val) rs1374892742 0.00001
NM_001854.4(COL11A1):c.1991G>C (p.Gly664Ala) rs1432891693 0.00001
NM_001854.4(COL11A1):c.2187T>A (p.Asp729Glu) rs754657948 0.00001
NM_001854.4(COL11A1):c.2464A>G (p.Thr822Ala) rs1170275738 0.00001
NM_001854.4(COL11A1):c.2608C>T (p.Arg870Trp) rs778379327 0.00001
NM_001854.4(COL11A1):c.2609G>A (p.Arg870Gln) rs367952241 0.00001
NM_001854.4(COL11A1):c.2633C>G (p.Pro878Arg) rs370974962 0.00001
NM_001854.4(COL11A1):c.3010A>G (p.Lys1004Glu) rs1661031890 0.00001
NM_001854.4(COL11A1):c.3076C>T (p.Arg1026Cys) rs377320274 0.00001
NM_001854.4(COL11A1):c.3077G>A (p.Arg1026His) rs944650989 0.00001
NM_001854.4(COL11A1):c.3175C>G (p.Pro1059Ala) rs758428843 0.00001
NM_001854.4(COL11A1):c.3401C>T (p.Pro1134Leu) rs764478054 0.00001
NM_001854.4(COL11A1):c.352A>G (p.Ile118Val) rs202212358 0.00001
NM_001854.4(COL11A1):c.3698A>G (p.Asn1233Ser) rs778311240 0.00001
NM_001854.4(COL11A1):c.3776A>C (p.Glu1259Ala) rs1232967796 0.00001
NM_001854.4(COL11A1):c.3874C>A (p.Pro1292Thr) rs1271972029 0.00001
NM_001854.4(COL11A1):c.4019A>G (p.Asp1340Gly) rs368644959 0.00001
NM_001854.4(COL11A1):c.4175C>T (p.Thr1392Ile) rs780411112 0.00001
NM_001854.4(COL11A1):c.4581T>A (p.Ser1527Arg) rs146997967 0.00001
NM_001854.4(COL11A1):c.4618G>A (p.Gly1540Ser) rs933062306 0.00001
NM_001854.4(COL11A1):c.4692T>G (p.Asp1564Glu) rs377486490 0.00001
NM_001854.4(COL11A1):c.496C>T (p.Arg166Trp) rs780211105 0.00001
NM_001854.4(COL11A1):c.502G>A (p.Ala168Thr) rs150144437 0.00001
NM_001854.4(COL11A1):c.5401C>G (p.Pro1801Ala) rs772836164 0.00001
NM_001854.4(COL11A1):c.568C>G (p.Leu190Val) rs1350630820 0.00001
NM_001854.4(COL11A1):c.682G>A (p.Asp228Asn) rs746487895 0.00001
NM_001854.4(COL11A1):c.1025A>G (p.Tyr342Cys)
NM_001854.4(COL11A1):c.1181C>A (p.Thr394Lys) rs1279958827
NM_001854.4(COL11A1):c.1186C>T (p.Pro396Ser) rs2525581497
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.1331C>A (p.Pro444Gln) rs2525534122
NM_001854.4(COL11A1):c.1629+1G>A rs1553234339
NM_001854.4(COL11A1):c.1846G>A (p.Gly616Ser) rs1168771172
NM_001854.4(COL11A1):c.1900G>C (p.Gly634Arg)
NM_001854.4(COL11A1):c.1973G>A (p.Gly658Glu) rs1201613198
NM_001854.4(COL11A1):c.1984G>C (p.Ala662Pro) rs2525370081
NM_001854.4(COL11A1):c.2018G>C (p.Gly673Ala)
NM_001854.4(COL11A1):c.218C>T (p.Ala73Val) rs1672522063
NM_001854.4(COL11A1):c.2260G>A (p.Gly754Ser) rs1242196023
NM_001854.4(COL11A1):c.2303A>T (p.Asp768Val)
NM_001854.4(COL11A1):c.2449G>A (p.Gly817Ser) rs1663713016
NM_001854.4(COL11A1):c.2546A>G (p.Gln849Arg) rs1404518979
NM_001854.4(COL11A1):c.2654C>T (p.Thr885Met) rs550201657
NM_001854.4(COL11A1):c.2681G>C (p.Arg894Thr)
NM_001854.4(COL11A1):c.2741C>A (p.Pro914His) rs2101678875
NM_001854.4(COL11A1):c.2893C>T (p.Pro965Ser) rs1470107899
NM_001854.4(COL11A1):c.2923A>C (p.Thr975Pro)
NM_001854.4(COL11A1):c.3128T>C (p.Leu1043Pro) rs886044176
NM_001854.4(COL11A1):c.3158C>A (p.Pro1053Gln)
NM_001854.4(COL11A1):c.3365C>A (p.Pro1122His) rs2101304072
NM_001854.4(COL11A1):c.3479C>A (p.Ala1160Asp) rs1658006964
NM_001854.4(COL11A1):c.3517A>G (p.Arg1173Gly) rs748514838
NM_001854.4(COL11A1):c.3535T>C (p.Phe1179Leu) rs2101214143
NM_001854.4(COL11A1):c.3633A>C (p.Glu1211Asp)
NM_001854.4(COL11A1):c.3667C>T (p.Pro1223Ser)
NM_001854.4(COL11A1):c.3685C>T (p.Pro1229Ser)
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val) rs750291363
NM_001854.4(COL11A1):c.3787C>T (p.Pro1263Ser)
NM_001854.4(COL11A1):c.3816+1G>A rs398122828
NM_001854.4(COL11A1):c.3875C>A (p.Pro1292His) rs1043927378
NM_001854.4(COL11A1):c.3889G>T (p.Gly1297Trp)
NM_001854.4(COL11A1):c.3893C>G (p.Pro1298Arg) rs2524484799
NM_001854.4(COL11A1):c.391G>A (p.Val131Ile) rs1158320165
NM_001854.4(COL11A1):c.3978+5G>A rs759455459
NM_001854.4(COL11A1):c.4066C>G (p.Pro1356Ala) rs772400369
NM_001854.4(COL11A1):c.4099G>C (p.Ala1367Pro) rs2524339829
NM_001854.4(COL11A1):c.4148C>T (p.Ala1383Val)
NM_001854.4(COL11A1):c.4282G>A (p.Asp1428Asn)
NM_001854.4(COL11A1):c.4297C>T (p.Pro1433Ser)
NM_001854.4(COL11A1):c.4372A>C (p.Ile1458Leu)
NM_001854.4(COL11A1):c.449A>T (p.Asp150Val) rs2526188298
NM_001854.4(COL11A1):c.4534A>G (p.Lys1512Glu) rs1651341768
NM_001854.4(COL11A1):c.454C>G (p.Pro152Ala) rs1312249178
NM_001854.4(COL11A1):c.4728G>T (p.Met1576Ile) rs886044974
NM_001854.4(COL11A1):c.4741G>A (p.Gly1581Ser) rs760545137
NM_001854.4(COL11A1):c.4810G>T (p.Ala1604Ser) rs1651044014
NM_001854.4(COL11A1):c.4938G>C (p.Glu1646Asp)
NM_001854.4(COL11A1):c.4956C>A (p.Asp1652Glu) rs1479781997
NM_001854.4(COL11A1):c.4991C>A (p.Pro1664Gln) rs1650268405
NM_001854.4(COL11A1):c.5351T>C (p.Met1784Thr)
NM_001854.4(COL11A1):c.5357A>G (p.Asn1786Ser)
NM_001854.4(COL11A1):c.5390T>G (p.Phe1797Cys) rs1478223213
NM_001854.4(COL11A1):c.550A>G (p.Lys184Glu) rs1041040231
NM_001854.4(COL11A1):c.810C>G (p.Asp270Glu)
NM_001854.4(COL11A1):c.836A>C (p.Lys279Thr) rs2525620068
NM_001854.4(COL11A1):c.929A>T (p.Asn310Ile) rs763947443

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