ClinVar Miner

List of variants in gene COL1A1 reported as likely benign by Invitae

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Total variants: 27
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HGVS dbSNP
NM_000088.3(COL1A1):c.1002+10G>T rs368316440
NM_000088.3(COL1A1):c.1269C>T (p.Pro423=) rs149301001
NM_000088.3(COL1A1):c.126G>C (p.Gln42His) rs1555575436
NM_000088.3(COL1A1):c.1461+7G>A rs374268357
NM_000088.3(COL1A1):c.1689T>C (p.Gly563=) rs1555573640
NM_000088.3(COL1A1):c.1881C>T (p.Pro627=) rs550265501
NM_000088.3(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465
NM_000088.3(COL1A1):c.2112C>A (p.Gly704=) rs768785416
NM_000088.3(COL1A1):c.2400A>G (p.Gly800=) rs1555572759
NM_000088.3(COL1A1):c.2508C>T (p.Gly836=) rs200620805
NM_000088.3(COL1A1):c.2595C>G (p.Arg865=) rs117672175
NM_000088.3(COL1A1):c.2601C>T (p.Ser867=) rs747037929
NM_000088.3(COL1A1):c.3046-8_3046-5dup rs138425306
NM_000088.3(COL1A1):c.3060C>T (p.Ala1020=) rs751239116
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.3102T>C (p.Gly1034=) rs147743501
NM_000088.3(COL1A1):c.3258C>T (p.Pro1086=) rs200319927
NM_000088.3(COL1A1):c.3423A>C (p.Arg1141=) rs148737409
NM_000088.3(COL1A1):c.3468C>T (p.Asn1156=) rs149980662
NM_000088.3(COL1A1):c.3532-8C>T rs1555571885
NM_000088.3(COL1A1):c.3726C>T (p.Ile1242=) rs768572265
NM_000088.3(COL1A1):c.3965G>A (p.Arg1322Lys) rs138544681
NM_000088.3(COL1A1):c.3996T>C (p.Asp1332=) rs1555571730
NM_000088.3(COL1A1):c.4017C>A (p.Gly1339=) rs201256042
NM_000088.3(COL1A1):c.528C>T (p.Ser176=) rs748856187
NM_000088.3(COL1A1):c.765G>A (p.Leu255=) rs373529600
NM_000088.3(COL1A1):c.972T>C (p.Asn324=) rs565335839

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