ClinVar Miner

List of variants in gene COL1A1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.642+25T>C rs73987448 0.05218
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) rs34940368 0.00563
NM_000088.4(COL1A1):c.612C>T (p.Pro204=) rs138078016 0.00480
NM_000088.4(COL1A1):c.2452-23del rs146899953 0.00427
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000088.4(COL1A1):c.999C>T (p.Pro333=) rs62637627 0.00222
NM_000088.4(COL1A1):c.2236-17C>G rs193922146 0.00137
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.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_000088.4(COL1A1):c.1768-8C>T rs193922142 0.00030
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_000088.4(COL1A1):c.299-15C>T rs199523510 0.00019
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000088.4(COL1A1):c.2594G>A (p.Arg865His) rs193922150 0.00011
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_000088.4(COL1A1):c.3045+3G>A rs41316695 0.00003
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His) rs543809032 0.00002
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val) rs918420911 0.00001
NM_000088.4(COL1A1):c.945C>T (p.Ala315=) rs780242725 0.00001
NM_000088.4(COL1A1):c.1021G>T (p.Gly341Cys) rs193922137
NM_000088.4(COL1A1):c.1200+1G>A rs72648320
NM_000088.4(COL1A1):c.1235C>G (p.Pro412Arg) rs193922138
NM_000088.4(COL1A1):c.1299+5G>A rs193922139
NM_000088.4(COL1A1):c.1544G>C (p.Gly515Ala) rs193922140
NM_000088.4(COL1A1):c.162_168dup (p.Pro57fs)
NM_000088.4(COL1A1):c.1657del (p.Thr553fs) rs193922141
NM_000088.4(COL1A1):c.1732G>A (p.Gly578Ser) rs1907330109
NM_000088.4(COL1A1):c.1812del (p.Gly605fs) rs193922143
NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter) rs193922144
NM_000088.4(COL1A1):c.2161C>T (p.Gln721Ter) rs193922145
NM_000088.4(COL1A1):c.2398-1G>C rs193922147
NM_000088.4(COL1A1):c.2418del (p.Gly809fs) rs193922148
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser) rs886042260
NM_000088.4(COL1A1):c.2450del (p.Pro817fs) rs193922149
NM_000088.4(COL1A1):c.2451+14C>A
NM_000088.4(COL1A1):c.2685del (p.Gly896fs) rs193922151
NM_000088.4(COL1A1):c.2897A>G (p.Gln966Arg) rs193922152
NM_000088.4(COL1A1):c.2901_2902del (p.Gly968fs) rs1555572406
NM_000088.4(COL1A1):c.299_300delAG rs193922154
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000088.4(COL1A1):c.35T>G (p.Leu12Arg) rs1555575857
NM_000088.4(COL1A1):c.370-2A>G rs193922155
NM_000088.4(COL1A1):c.4006-9C>T rs193922156
NM_000088.4(COL1A1):c.517G>T (p.Gly173Ter) rs193922157
NM_000088.4(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000088.4(COL1A1):c.608G>C (p.Gly203Ala)
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) rs72645357

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