ClinVar Miner

List of variants in gene COL1A2 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met) rs35820023 0.00139
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=) rs139726213 0.00120
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp) rs150124840 0.00054
NM_000089.4(COL1A2):c.945C>T (p.Pro315=) rs147058179 0.00024
NM_000089.4(COL1A2):c.1329G>A (p.Glu443=) rs146206917 0.00021
NM_000089.4(COL1A2):c.981C>T (p.Arg327=) rs141762645 0.00021
NM_000089.4(COL1A2):c.226-6C>A rs199616511 0.00014
NM_000089.4(COL1A2):c.3144T>C (p.Gly1048=) rs369434464 0.00014
NM_000089.4(COL1A2):c.2853T>C (p.Pro951=) rs148362963 0.00010
NM_000089.4(COL1A2):c.3792C>T (p.Ala1264=) rs745413783 0.00010
NM_000089.4(COL1A2):c.3186T>G (p.Ala1062=) rs930277720 0.00009
NM_000089.4(COL1A2):c.2025+9A>G rs368837694 0.00007
NM_000089.4(COL1A2):c.1086G>A (p.Glu362=) rs200284501 0.00006
NM_000089.4(COL1A2):c.2796C>T (p.Asn932=) rs757671800 0.00006
NM_000089.4(COL1A2):c.3870C>T (p.Val1290=) rs926855674 0.00005
NM_000089.4(COL1A2):c.3513A>G (p.Pro1171=) rs936707370 0.00004
NM_000089.4(COL1A2):c.3600C>T (p.Gly1200=) rs777362679 0.00004
NM_000089.4(COL1A2):c.71-7T>C rs774842422 0.00004
NM_000089.4(COL1A2):c.81+10A>G rs750283092 0.00003
NM_000089.4(COL1A2):c.3852C>A (p.Gly1284=) rs663 0.00002
NM_000089.4(COL1A2):c.679G>A (p.Ala227Thr) rs375401215 0.00002
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573 0.00001
NM_000089.4(COL1A2):c.3954T>C (p.Ser1318=) rs781599112 0.00001
NM_000089.4(COL1A2):c.1252-29C>G
NM_000089.4(COL1A2):c.1326G>C (p.Gly442=)
NM_000089.4(COL1A2):c.1350+3A>G
NM_000089.4(COL1A2):c.1512T>C (p.Pro504=)
NM_000089.4(COL1A2):c.2082C>A (p.Gly694=) rs193229878
NM_000089.4(COL1A2):c.2844C>T (p.Arg948=) rs772555004
NM_000089.4(COL1A2):c.2880A>T (p.Ala960=)
NM_000089.4(COL1A2):c.576C>G (p.Pro192=) rs140656978
NM_000089.4(COL1A2):c.81+9A>G
NM_000089.4(COL1A2):c.97-7C>T

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