ClinVar Miner

List of variants in gene COL1A1 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 30
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HGVS dbSNP
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.1621A>G (p.Thr541Ala) rs766204229
NM_000088.3(COL1A1):c.1767+3_1767+6delGAGT rs886042301
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.2143C>T (p.Pro715Ser) rs886043618
NM_000088.3(COL1A1):c.2283C>T (p.Gly761=)
NM_000088.3(COL1A1):c.2288G>A (p.Arg763His) rs144820445
NM_000088.3(COL1A1):c.2508C>T (p.Gly836=) rs200620805
NM_000088.3(COL1A1):c.2535A>C (p.Gly845=) rs886043649
NM_000088.3(COL1A1):c.2614-8C>T rs886042649
NM_000088.3(COL1A1):c.2715C>T (p.Gly905=) rs779337831
NM_000088.3(COL1A1):c.277C>A (p.Pro93Thr) rs886042456
NM_000088.3(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.3(COL1A1):c.299-9G>T rs373041336
NM_000088.3(COL1A1):c.3025C>T (p.Pro1009Ser) rs794727663
NM_000088.3(COL1A1):c.3060C>T (p.Ala1020=) rs751239116
NM_000088.3(COL1A1):c.3100-6C>T rs377123276
NM_000088.3(COL1A1):c.3207+8G>T rs866785621
NM_000088.3(COL1A1):c.3258C>T (p.Pro1086=) rs200319927
NM_000088.3(COL1A1):c.3369+9G>T rs1009435359
NM_000088.3(COL1A1):c.3733A>T (p.Ile1245Phe) rs199514372
NM_000088.3(COL1A1):c.3761A>C (p.Asn1254Thr) rs766709517
NM_000088.3(COL1A1):c.3906C>T (p.Pro1302=) rs188887858
NM_000088.3(COL1A1):c.3923C>A (p.Ala1308Asp) rs1370247898
NM_000088.3(COL1A1):c.3944G>T (p.Ser1315Ile) rs1391247648
NM_000088.3(COL1A1):c.472-4C>G
NM_000088.3(COL1A1):c.516C>T (p.Thr172=) rs377195143
NM_000088.3(COL1A1):c.627C>T (p.Gly209=) rs201136122
NM_000088.3(COL1A1):c.740C>T (p.Pro247Leu) rs199626372

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