ClinVar Miner

List of variants in gene COL1A2 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.1350+11A>T rs193922160 0.00140
NM_000089.4(COL1A2):c.639+19A>T rs183516726 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.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.2781+13C>G rs193922163 0.00001
NM_000089.4(COL1A2):c.1557+5G>T rs193922161
NM_000089.4(COL1A2):c.1886C>A (p.Ala629Asp)
NM_000089.4(COL1A2):c.2462_2464del (p.Pro821del)
NM_000089.4(COL1A2):c.2674-6G>C rs771442891
NM_000089.4(COL1A2):c.2713G>T (p.Ala905Ser) rs1344095248
NM_000089.4(COL1A2):c.81+11del rs193922174

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