ClinVar Miner

List of variants in gene COL11A1 reported as uncertain significance for not provided

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Total variants: 74
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HGVS dbSNP
GRCh37/hg19 1p21.1(chr1:103487914-103601156)x3
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.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.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.168_170AAC[1] (p.Thr58del) rs1553253791
NM_001854.4(COL11A1):c.173C>T (p.Thr58Met) rs770162224
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1961T>C (p.Leu654Pro) rs1131691449
NM_001854.4(COL11A1):c.2097+3A>G rs770210430
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) rs56230601
NM_001854.4(COL11A1):c.2241+6T>C rs374197371
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161
NM_001854.4(COL11A1):c.2470G>A (p.Asp824Asn) rs1064796668
NM_001854.4(COL11A1):c.2556+92T>A rs550991929
NM_001854.4(COL11A1):c.2725G>A (p.Asp909Asn) rs779028602
NM_001854.4(COL11A1):c.2754+4C>T
NM_001854.4(COL11A1):c.2916+3A>G rs200515572
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=)
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.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.3811G>T (p.Val1271Leu) rs150669855
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.4032G>A (p.Pro1344=) rs147637674
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006
NM_001854.4(COL11A1):c.4100C>T (p.Ala1367Val) rs1057518442
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207
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.4552A>C (p.Thr1518Pro) rs1057523166
NM_001854.4(COL11A1):c.4555-4A>T
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.4718C>T (p.Ser1573Leu) rs143531636
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624
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.893C>T (p.Thr298Met) rs398123652
NM_001854.4(COL11A1):c.973G>T (p.Val325Phe) rs746633493
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.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.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.3393C>T (p.Ala1131=) rs375400337
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.4356T>C (p.Pro1452=) rs762511819
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

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