ClinVar Miner

List of variants in gene COL1A1 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.3223= (p.Ala1075=) rs1800215 0.97286
NM_000088.4(COL1A1):c.4249-12G>A rs2249492 0.52233
NM_000088.4(COL1A1):c.2560-18C>G rs2075559 0.50861
NM_000088.4(COL1A1):c.1930-14T>C rs2696247 0.13425
NM_000088.3(COL1A1):c.-161C>T rs113647555 0.02290
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=) rs148275339 0.00788
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) rs41316667 0.00750
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) rs1800217 0.00465
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104 0.00432
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000088.4(COL1A1):c.3531+10C>A rs41316721 0.00179
NM_000088.4(COL1A1):c.3761A>C (p.Asn1254Thr) rs766709517 0.00148
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946 0.00064
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=) rs145608939 0.00042
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_000088.4(COL1A1):c.1002+10G>T rs368316440 0.00031
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_000088.4(COL1A1):c.3100-6C>T rs377123276 0.00019
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000088.4(COL1A1):c.627C>T (p.Gly209=) rs201136122 0.00013
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246 0.00006
NM_000088.4(COL1A1):c.2288G>A (p.Arg763His) rs144820445 0.00006
NM_000088.4(COL1A1):c.2508C>T (p.Gly836=) rs200620805 0.00006
NM_000088.4(COL1A1):c.299-9G>T rs373041336 0.00004
NM_000088.4(COL1A1):c.3944G>T (p.Ser1315Ile) rs1391247648 0.00004
NM_000088.4(COL1A1):c.3258C>T (p.Pro1086=) rs200319927 0.00003
NM_000088.4(COL1A1):c.1621A>G (p.Thr541Ala) rs766204229 0.00001
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642 0.00001
NM_000088.4(COL1A1):c.2614-8C>T rs886042649 0.00001
NM_000088.4(COL1A1):c.2715C>T (p.Gly905=) rs779337831 0.00001
NM_000088.4(COL1A1):c.277C>A (p.Pro93Thr) rs886042456 0.00001
NM_000088.4(COL1A1):c.3025C>T (p.Pro1009Ser) rs794727663 0.00001
NM_000088.4(COL1A1):c.3060C>T (p.Ala1020=) rs751239116 0.00001
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe) rs199514372 0.00001
NM_000088.4(COL1A1):c.3906C>T (p.Pro1302=) rs188887858 0.00001
NM_000088.3(COL1A1):c.1301delG (p.Gly434Valfs) rs1555573968
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala) rs72648327
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000088.4(COL1A1):c.1318G>A (p.Gly440Ser) rs794727319
NM_000088.4(COL1A1):c.1452del (p.Gly485fs) rs72648346
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser) rs67507747
NM_000088.4(COL1A1):c.1767+2T>G rs794727394
NM_000088.4(COL1A1):c.1767+3_1767+6del rs886042301
NM_000088.4(COL1A1):c.1875+1G>C rs72651622
NM_000088.4(COL1A1):c.2010del (p.Gly671fs) rs72651634
NM_000088.4(COL1A1):c.2143C>T (p.Pro715Ser) rs886043618
NM_000088.4(COL1A1):c.2161C>T (p.Gln721Ter) rs193922145
NM_000088.4(COL1A1):c.2283C>T (p.Gly761=) rs759665341
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser) rs886042260
NM_000088.4(COL1A1):c.2535A>C (p.Gly845=) rs886043649
NM_000088.4(COL1A1):c.2588G>C (p.Gly863Ala) rs886043749
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.4(COL1A1):c.2930G>T (p.Gly977Val) rs886042308
NM_000088.4(COL1A1):c.2991del (p.Gly998fs) rs886042603
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000088.4(COL1A1):c.3061G>T (p.Glu1021Ter) rs139593707
NM_000088.4(COL1A1):c.3065G>C (p.Gly1022Ala) rs67771061
NM_000088.4(COL1A1):c.3127G>A (p.Gly1043Arg) rs886044125
NM_000088.4(COL1A1):c.3162del (p.Gly1055fs) rs72654794
NM_000088.4(COL1A1):c.3207+8G>T rs866785621
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.4(COL1A1):c.3369+9G>T rs1009435359
NM_000088.4(COL1A1):c.3567del (p.Gly1190fs) rs886042286
NM_000088.4(COL1A1):c.3923C>A (p.Ala1308Asp) rs1370247898
NM_000088.4(COL1A1):c.3939C>A (p.Tyr1313Ter) rs886042609
NM_000088.4(COL1A1):c.472-1G>C rs72667020
NM_000088.4(COL1A1):c.472-4C>G rs753888456
NM_000088.4(COL1A1):c.516C>T (p.Thr172=) rs377195143
NM_000088.4(COL1A1):c.643-2A>G rs886042602
NM_000088.4(COL1A1):c.91C>T (p.Gln31Ter) rs794726873
NM_000088.4(COL1A1):c.959G>A (p.Gly320Asp) rs72645353

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