ClinVar Miner

List of variants in gene COL1A1 reported as uncertain significance by GeneDx

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Total variants: 25
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HGVS dbSNP
NM_000088.3(COL1A1):c.*20G>C rs199806909
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.3(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000088.3(COL1A1):c.1691G>A (p.Arg564His) rs1800211
NM_000088.3(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465
NM_000088.3(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246
NM_000088.3(COL1A1):c.2288G>A (p.Arg763His) rs144820445
NM_000088.3(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214
NM_000088.3(COL1A1):c.2593C>T (p.Arg865Cys) rs1555572582
NM_000088.3(COL1A1):c.2944C>A (p.Pro982Thr) rs141117382
NM_000088.3(COL1A1):c.3094G>A (p.Ala1032Thr) rs374095521
NM_000088.3(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556
NM_000088.3(COL1A1):c.3313A>G (p.Arg1105Gly) rs1555572101
NM_000088.3(COL1A1):c.334-5C>A rs115997082
NM_000088.3(COL1A1):c.3412G>T (p.Ala1138Ser) rs1064796592
NM_000088.3(COL1A1):c.3565C>A (p.Pro1189Thr) rs1057518340
NM_000088.3(COL1A1):c.3680G>A (p.Arg1227His) rs543809032
NM_000088.3(COL1A1):c.3865G>C (p.Val1289Leu) rs780472683
NM_000088.3(COL1A1):c.3979G>A (p.Gly1327Ser) rs147104425
NM_000088.3(COL1A1):c.4196G>A (p.Arg1399His) rs146035171
NM_000088.3(COL1A1):c.4339G>A (p.Val1447Ile) rs367952133
NM_000088.3(COL1A1):c.696+6T>C rs747108049
NM_000088.3(COL1A1):c.865C>T (p.Pro289Ser) rs1057524833
NM_000088.3(COL1A1):c.964C>T (p.Arg322Cys) rs777644312

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