ClinVar Miner

List of variants in gene COL11A1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 235
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HGVS dbSNP
GRCh37/hg19 1p21.1(chr1:103155605-103510258)x3
GRCh37/hg19 1p21.1(chr1:103230040-103510097)x3
GRCh37/hg19 1p21.1(chr1:103277571-103510258)x3
GRCh37/hg19 1p21.1(chr1:103277571-103548497)x3
GRCh37/hg19 1p21.1(chr1:103328723-103384168)x3
GRCh37/hg19 1p21.1(chr1:103328723-103391806)x3
GRCh37/hg19 1p21.1(chr1:103328723-103498007)x3
GRCh37/hg19 1p21.1(chr1:103328723-103548505)x3
GRCh37/hg19 1p21.1(chr1:103328723-103548782)x3
GRCh37/hg19 1p21.1(chr1:103328723-103569945)x3
GRCh37/hg19 1p21.1(chr1:103342392-103391715)x3
GRCh37/hg19 1p21.1(chr1:103342392-103497583)x3
GRCh37/hg19 1p21.1(chr1:103342392-103497951)x3
GRCh37/hg19 1p21.1(chr1:103342392-103507254)x3
GRCh37/hg19 1p21.1(chr1:103342392-103507742)x3
GRCh37/hg19 1p21.1(chr1:103342392-103508817)x3
GRCh37/hg19 1p21.1(chr1:103342392-103510258)x3
GRCh37/hg19 1p21.1(chr1:103342392-103510756)x3
GRCh37/hg19 1p21.1(chr1:103342392-103548505)x3
GRCh37/hg19 1p21.1(chr1:103342392-103548782)x3
GRCh37/hg19 1p21.1(chr1:103343421-103482614)x3
GRCh37/hg19 1p21.1(chr1:103343421-103510258)x3
GRCh37/hg19 1p21.1(chr1:103343583-103510097)x3
GRCh37/hg19 1p21.1(chr1:103343583-103510258)x3
GRCh37/hg19 1p21.1(chr1:103343583-103548497)x3
GRCh37/hg19 1p21.1(chr1:103346245-103482614)x3
GRCh37/hg19 1p21.1(chr1:103346245-103550401)x3
GRCh37/hg19 1p21.1(chr1:103350881-103548497)x3
GRCh37/hg19 1p21.1(chr1:103351323-103375747)x3
GRCh37/hg19 1p21.1(chr1:103351323-103510097)x1
GRCh37/hg19 1p21.1(chr1:103351323-103539196)x3
GRCh37/hg19 1p21.1(chr1:103351323-103548497)x3
GRCh37/hg19 1p21.1(chr1:103351323-103567908)x3
GRCh37/hg19 1p21.1(chr1:103353792-103391621)x3
GRCh37/hg19 1p21.1(chr1:103487914-103601156)x3
GRCh37/hg19 1p21.1(chr1:103517472-103548497)x3
GRCh37/hg19 1p21.1(chr1:103517755-103539196)x3
GRCh37/hg19 1p21.1(chr1:103530782-103539196)x4
GRCh37/hg19 1p21.1(chr1:103530782-103548497)x3
GRCh37/hg19 1p21.1(chr1:103530782-103548782)x3
GRCh37/hg19 1p21.1(chr1:103530782-103550401)x3
NC_000001.11:g.102897895dup
NC_000001.11:g.102915337_102915340del
NC_000001.11:g.102921104G>A
NC_000001.11:g.102923244_102923245del
NC_000001.11:g.102934362del
NC_000001.11:g.102934855_102934858del
NC_000001.11:g.102995952T>A
NC_000001.11:g.103004916_103004919del
NC_000001.11:g.103012270dup
NC_000001.11:g.103018051del
NC_000001.11:g.103023047_103023048del
NC_000001.11:g.103026623_103026624del
NC_000001.11:g.103082607_103082611del
NC_000001.11:g.103082763C>G
NM_001854.3(COL11A1):c.1792-12_1792-10dupATG rs71752747
NM_001854.4(COL11A1):c.-78T>A rs12025921
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147
NM_001854.4(COL11A1):c.1039G>A (p.Asp347Asn) rs199942159
NM_001854.4(COL11A1):c.1056G>A (p.Arg352=)
NM_001854.4(COL11A1):c.106+138T>C
NM_001854.4(COL11A1):c.106+82C>T
NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro) rs141036911
NM_001854.4(COL11A1):c.1155A>C (p.Glu385Asp) rs1057524404
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.1308+20C>A
NM_001854.4(COL11A1):c.1351-76G>A
NM_001854.4(COL11A1):c.1413+156T>A
NM_001854.4(COL11A1):c.1413+47A>G
NM_001854.4(COL11A1):c.1414-226A>G
NM_001854.4(COL11A1):c.1414-9T>A rs794727062
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His) rs149558726
NM_001854.4(COL11A1):c.1444G>A (p.Ala482Thr) rs150428394
NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser) rs145159429
NM_001854.4(COL11A1):c.1488G>A (p.Pro496=) rs772310071
NM_001854.4(COL11A1):c.1489-5C>A rs370997745
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala) rs55851925
NM_001854.4(COL11A1):c.1629+150T>C
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_001854.4(COL11A1):c.1685G>A (p.Gly562Asp) rs886039743
NM_001854.4(COL11A1):c.168_170AAC[1] (p.Thr58del) rs1553253791
NM_001854.4(COL11A1):c.173C>T (p.Thr58Met) rs770162224
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=) rs111841420
NM_001854.4(COL11A1):c.1926A>G (p.Arg642=)
NM_001854.4(COL11A1):c.1945-19C>T
NM_001854.4(COL11A1):c.1945-7C>A rs201424786
NM_001854.4(COL11A1):c.1961T>C (p.Leu654Pro) rs1131691449
NM_001854.4(COL11A1):c.2043+8G>A rs2622875
NM_001854.4(COL11A1):c.2097+3A>G rs770210430
NM_001854.4(COL11A1):c.2098-90G>A
NM_001854.4(COL11A1):c.2142+258A>G
NM_001854.4(COL11A1):c.2142+263G>A
NM_001854.4(COL11A1):c.2143-291A>G
NM_001854.4(COL11A1):c.2143-315A>G
NM_001854.4(COL11A1):c.2143-57C>A
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) rs56230601
NM_001854.4(COL11A1):c.2196+183G>A
NM_001854.4(COL11A1):c.2196+303A>T
NM_001854.4(COL11A1):c.2197-240C>T
NM_001854.4(COL11A1):c.2241+6T>C rs374197371
NM_001854.4(COL11A1):c.2241+89C>T
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161
NM_001854.4(COL11A1):c.2341-90G>A
NM_001854.4(COL11A1):c.2470G>A (p.Asp824Asn) rs1064796668
NM_001854.4(COL11A1):c.2485_2486insAAG (p.Gly829_Gln830insGlu) rs1553227204
NM_001854.4(COL11A1):c.2502+317A>G
NM_001854.4(COL11A1):c.2556+239C>A
NM_001854.4(COL11A1):c.2556+293del
NM_001854.4(COL11A1):c.2556+92T>A rs550991929
NM_001854.4(COL11A1):c.2556+96C>G
NM_001854.4(COL11A1):c.2557-138G>A
NM_001854.4(COL11A1):c.2557-8T>C
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164
NM_001854.4(COL11A1):c.2610+18G>A
NM_001854.4(COL11A1):c.2725G>A (p.Asp909Asn) rs779028602
NM_001854.4(COL11A1):c.274+5A>G
NM_001854.4(COL11A1):c.2754+139T>G
NM_001854.4(COL11A1):c.2754+4C>T
NM_001854.4(COL11A1):c.2754+5G>A rs1057518666
NM_001854.4(COL11A1):c.2792G>A (p.Gly931Glu) rs1557891760
NM_001854.4(COL11A1):c.2808+1G>A rs1553223152
NM_001854.4(COL11A1):c.2809-107A>G
NM_001854.4(COL11A1):c.2809-313T>C
NM_001854.4(COL11A1):c.2862+200G>C
NM_001854.4(COL11A1):c.2916+3A>G rs200515572
NM_001854.4(COL11A1):c.2917-197C>G
NM_001854.4(COL11A1):c.2917-73C>T
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647
NM_001854.4(COL11A1):c.3168+277G>A
NM_001854.4(COL11A1):c.318A>G (p.Lys106=) rs150668398
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=)
NM_001854.4(COL11A1):c.3276+334C>A
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499
NM_001854.4(COL11A1):c.3297G>C (p.Gly1099=) rs768553239
NM_001854.4(COL11A1):c.3301G>T (p.Ala1101Ser) rs1557849897
NM_001854.4(COL11A1):c.3358G>A (p.Gly1120Ser) rs370589018
NM_001854.4(COL11A1):c.3385-292T>A
NM_001854.4(COL11A1):c.3438+268T>C
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470
NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu) rs753649097
NM_001854.4(COL11A1):c.3652A>G (p.Met1218Val) rs951017335
NM_001854.4(COL11A1):c.3708+182G>T
NM_001854.4(COL11A1):c.3708+267G>A
NM_001854.4(COL11A1):c.3708+414C>T
NM_001854.4(COL11A1):c.3709-180G>C
NM_001854.4(COL11A1):c.3709-565A>G
NM_001854.4(COL11A1):c.3762+76G>C
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855
NM_001854.4(COL11A1):c.3816+1G>A rs398122828
NM_001854.4(COL11A1):c.3816+5G>A rs1057524237
NM_001854.4(COL11A1):c.3831A>C (p.Glu1277Asp) rs780739712
NM_001854.4(COL11A1):c.3868G>T (p.Ala1290Ser) rs370988085
NM_001854.4(COL11A1):c.3873A>C (p.Gly1291=)
NM_001854.4(COL11A1):c.3979-259G>A
NM_001854.4(COL11A1):c.3979-278A>G
NM_001854.4(COL11A1):c.3979-299T>A
NM_001854.4(COL11A1):c.3979-302T>C
NM_001854.4(COL11A1):c.4032+204T>A
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) rs147637674
NM_001854.4(COL11A1):c.4033-295C>A
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006
NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter) rs755987732
NM_001854.4(COL11A1):c.4086+174C>G
NM_001854.4(COL11A1):c.4100C>T (p.Ala1367Val) rs1057518442
NM_001854.4(COL11A1):c.4140+10A>G
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207
NM_001854.4(COL11A1):c.4302+219T>G
NM_001854.4(COL11A1):c.4302+303C>T
NM_001854.4(COL11A1):c.4302+305T>C
NM_001854.4(COL11A1):c.4303-100G>A
NM_001854.4(COL11A1):c.4303-312T>C
NM_001854.4(COL11A1):c.4357-335C>G
NM_001854.4(COL11A1):c.4377C>T (p.Gly1459=)
NM_001854.4(COL11A1):c.4411G>A (p.Gly1471Ser) rs1057522949
NM_001854.4(COL11A1):c.4526A>C (p.Gln1509Pro) rs1057521422
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.4552A>C (p.Thr1518Pro) rs1057523166
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549
NM_001854.4(COL11A1):c.4608+266G>A
NM_001854.4(COL11A1):c.4642A>G (p.Ile1548Val) rs1557775198
NM_001854.4(COL11A1):c.4661C>T (p.Thr1554Met) rs759287748
NM_001854.4(COL11A1):c.4701T>C (p.Asp1567=) rs138691968
NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu) rs143531636
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624
NM_001854.4(COL11A1):c.4858+287G>A
NM_001854.4(COL11A1):c.488+281T>A
NM_001854.4(COL11A1):c.489-302A>G
NM_001854.4(COL11A1):c.489-92A>G
NM_001854.4(COL11A1):c.4971+295T>A
NM_001854.4(COL11A1):c.5041-272G>C
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347
NM_001854.4(COL11A1):c.5273C>T (p.Ala1758Val) rs202065765
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser)
NM_001854.4(COL11A1):c.780+52C>A
NM_001854.4(COL11A1):c.781-380C>A
NM_001854.4(COL11A1):c.882A>G (p.Thr294=)
NM_001854.4(COL11A1):c.893C>T (p.Thr298Met) rs398123652
NM_001854.4(COL11A1):c.898-292A>C
NM_001854.4(COL11A1):c.898-38T>A
NM_001854.4(COL11A1):c.973G>T (p.Val325Phe) rs746633493
NM_001854.4(COL11A1):c.990+69C>T
NM_080629.2(COL11A1):c.1001C>T (p.Pro334Leu) rs183130583
NM_080629.2(COL11A1):c.1088A>G (p.Gln363Arg) rs751155680
NM_080629.2(COL11A1):c.1226dup (p.Pro409_Asn410insTer) rs1343199316
NM_080629.2(COL11A1):c.1237T>C (p.Phe413Leu) rs141817156
NM_080629.2(COL11A1):c.1395G>A (p.Met465Ile) rs755173952
NM_080629.2(COL11A1):c.1573G>C (p.Glu525Gln) rs1288240581
NM_080629.2(COL11A1):c.1778G>A (p.Arg593His) rs769449348
NM_080629.2(COL11A1):c.1828-39ATG[13] rs71752747
NM_080629.2(COL11A1):c.2050G>A (p.Asp684Asn) rs143663917
NM_080629.2(COL11A1):c.2134-4A>T rs759906097
NM_080629.2(COL11A1):c.2261G>C (p.Gly754Ala) rs886044320
NM_080629.2(COL11A1):c.2405G>A (p.Gly802Asp) rs886044242
NM_080629.2(COL11A1):c.2459G>A (p.Gly820Glu) rs754751701
NM_080629.2(COL11A1):c.2646+9T>C rs754222130
NM_080629.2(COL11A1):c.3012T>C (p.Pro1004=) rs368868551
NM_080629.2(COL11A1):c.3164T>C (p.Leu1055Pro) rs886044176
NM_080629.2(COL11A1):c.3204+1G>T rs886042653
NM_080629.2(COL11A1):c.3393C>T (p.Ala1131=) rs375400337
NM_080629.2(COL11A1):c.3683G>A (p.Gly1228Asp)
NM_080629.2(COL11A1):c.3745-1G>A rs727503881
NM_080629.2(COL11A1):c.3815C>A (p.Ala1272Glu) rs750838060
NM_080629.2(COL11A1):c.4020A>G (p.Gln1340=) rs767276283
NM_080629.2(COL11A1):c.4034_4045del (p.Gly1345_Gly1348del) rs886042660
NM_080629.2(COL11A1):c.4068+1G>A rs1553200868
NM_080629.2(COL11A1):c.4338+2T>C rs1553196233
NM_080629.2(COL11A1):c.4356T>C (p.Pro1452=) rs762511819
NM_080629.2(COL11A1):c.4590+1G>C rs886044244
NM_080629.2(COL11A1):c.4591-4A>T
NM_080629.2(COL11A1):c.4895-3T>C rs774985706
NM_080629.2(COL11A1):c.5106C>T (p.Ser1702=) rs1047706446
NM_080629.2(COL11A1):c.510C>T (p.Ser170=) rs749497678
NM_080629.2(COL11A1):c.652-1G>C rs1064797115
NM_080629.2(COL11A1):c.781-294del

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