ClinVar Miner

List of variants in gene COL1A2 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_000089.4(COL1A2):c.3018C>T (p.Gly1006=) rs62001059 0.00679
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365 0.00404
NM_000089.4(COL1A2):c.1036-14G>A rs114322680 0.00338
NM_000089.4(COL1A2):c.2700C>T (p.Ala900=) rs141688356 0.00235
NM_000089.4(COL1A2):c.1350+11A>T rs193922160 0.00140
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=) rs139726213 0.00120
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_000089.4(COL1A2):c.639+19A>T rs183516726 0.00024
NM_000089.4(COL1A2):c.945C>T (p.Pro315=) rs147058179 0.00024
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln) rs139446305 0.00021
NM_000089.4(COL1A2):c.2782-19T>G rs193922164 0.00011
NM_000089.4(COL1A2):c.486+15A>G rs193922171 0.00010
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His) rs193922159 0.00004
NM_000089.4(COL1A2):c.4048G>A (p.Gly1350Ser) rs193922170 0.00004
NM_000089.4(COL1A2):c.700C>T (p.Arg234Cys) rs1206388800 0.00003
NM_000089.4(COL1A2):c.2933G>A (p.Arg978His) rs559605075 0.00002
NM_000089.4(COL1A2):c.2777G>A (p.Arg926His) rs200331961 0.00001
NM_000089.4(COL1A2):c.2781+13C>G rs193922163 0.00001
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser) rs1410254723 0.00001
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser) rs72656387 0.00001
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser) rs67865220
NM_000089.4(COL1A2):c.1423G>A (p.Gly475Ser) rs755058199
NM_000089.4(COL1A2):c.1557+5G>T rs193922161
NM_000089.4(COL1A2):c.1837G>A (p.Gly613Arg) rs1792044352
NM_000089.4(COL1A2):c.1873G>A (p.Gly625Ser) rs193922162
NM_000089.4(COL1A2):c.1886C>A (p.Ala629Asp)
NM_000089.4(COL1A2):c.1991G>A (p.Gly664Asp) rs72658154
NM_000089.4(COL1A2):c.1999G>T (p.Gly667Cys) rs1554397369
NM_000089.4(COL1A2):c.2082C>A (p.Gly694=) rs193229878
NM_000089.4(COL1A2):c.2206G>T (p.Gly736Cys) rs72658173
NM_000089.4(COL1A2):c.2462_2464del (p.Pro821del)
NM_000089.4(COL1A2):c.2575G>A (p.Gly859Ser) rs72658200
NM_000089.4(COL1A2):c.2674-6G>C rs771442891
NM_000089.4(COL1A2):c.2713G>T (p.Ala905Ser) rs1344095248
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg) rs193922165
NM_000089.4(COL1A2):c.3106-2del rs193922166
NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys) rs1792298693
NM_000089.4(COL1A2):c.3284del (p.Pro1095fs) rs193922167
NM_000089.4(COL1A2):c.3355G>C (p.Ala1119Pro) rs193922168
NM_000089.4(COL1A2):c.3435G>A (p.Gln1145=) rs193922169
NM_000089.4(COL1A2):c.3942A>G (p.Val1314=)
NM_000089.4(COL1A2):c.594+118del rs193922172
NM_000089.4(COL1A2):c.677G>A (p.Gly226Asp) rs193922173
NM_000089.4(COL1A2):c.70+9C>T
NM_000089.4(COL1A2):c.739G>A (p.Gly247Ser)
NM_000089.4(COL1A2):c.81+11del rs193922174
NM_000089.4(COL1A2):c.81+12T>C
NM_000089.4(COL1A2):c.845GTG[1] (p.Gly283del) rs193922175
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser) rs72656394

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