ClinVar Miner

List of variants reported as benign for Ehlers-danlos syndrome, arthrochalasia type, 2

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.936+14C>T rs42518 0.81710
NM_000089.4(COL1A2):c.937-3C>T rs42519 0.81243
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala) rs42524 0.80779
NM_000089.4(COL1A2):c.1446A>C (p.Pro482=) rs412777 0.35874
NM_000089.4(COL1A2):c.1665+15A>G rs421587 0.28734
NM_000089.4(COL1A2):c.246T>C (p.Asp82=) rs1800222 0.25224
NM_000089.4(COL1A2):c.*194C>T rs1060399 0.20320
NM_000089.4(COL1A2):c.87T>C (p.Thr29=) rs1801182 0.12315
NM_000089.4(COL1A2):c.*804G>T rs1062394 0.09387
NM_000089.4(COL1A2):c.3712-13C>T rs74335369 0.03051
NM_000089.4(COL1A2):c.1878G>T (p.Val626=) rs1800238 0.02599
NM_000089.4(COL1A2):c.82-12A>G rs143689469 0.01736
NM_000089.4(COL1A2):c.*205A>G rs6955879 0.01322
NM_000089.3(COL1A2):c.-287C>T rs190926256 0.00907
NM_000089.4(COL1A2):c.3018C>T (p.Gly1006=) rs62001059 0.00679
NM_000089.4(COL1A2):c.1036-12A>G rs41316929 0.00613
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
NM_000089.4(COL1A2):c.*283T>C rs114837909 0.00448
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365 0.00404
NM_000089.4(COL1A2):c.*415T>G rs148913603 0.00367
NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=) rs34038163 0.00352
NM_000089.4(COL1A2):c.1036-14G>A rs114322680 0.00338
NM_000089.4(COL1A2):c.122G>A (p.Arg41His) rs139528613 0.00310
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_000089.4(COL1A2):c.*605A>G rs537557756 0.00181
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile) rs368468 0.00177
NM_000089.4(COL1A2):c.3614G>A (p.Arg1205Gln) rs73428220 0.00167
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460 0.00159
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=) rs139726213 0.00120
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_000089.4(COL1A2):c.2526C>T (p.Phe842=) rs41317725 0.00028
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=) rs150670521 0.00025
NM_000089.4(COL1A2):c.892-13C>G rs200532328 0.00024
NM_000089.4(COL1A2):c.1866T>C (p.Gly622=) rs765470622 0.00019
NM_000089.4(COL1A2):c.*195C>T rs190115417 0.00016
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343 0.00016
NM_000089.4(COL1A2):c.3144T>C (p.Gly1048=) rs369434464 0.00014
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=) rs142352627 0.00013
NM_000089.4(COL1A2):c.2566-6A>G rs141088934 0.00012
NM_000089.4(COL1A2):c.2025+9A>G rs368837694 0.00007
NM_000089.4(COL1A2):c.671G>A (p.Arg224His) rs771139732 0.00006
NM_000089.4(COL1A2):c.526T>C (p.Phe176Leu) rs370234887 0.00005
NM_000089.4(COL1A2):c.48C>T (p.Thr16=) rs780687409 0.00004
NM_000089.4(COL1A2):c.783T>C (p.Pro261=) rs200436925 0.00004
NM_000089.4(COL1A2):c.3754A>G (p.Thr1252Ala) rs761465504 0.00003
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573 0.00001
NM_000089.4(COL1A2):c.3883T>C (p.Ser1295Pro) rs757449082 0.00001
NM_000089.4(COL1A2):c.1446A>T (p.Pro482=) rs412777
NM_000089.4(COL1A2):c.2082C>A (p.Gly694=) rs193229878
NM_000089.4(COL1A2):c.2563G>A (p.Ala855Thr) rs541473356
NM_000089.4(COL1A2):c.2569C>A (p.Pro857Thr) rs150179964
NM_000089.4(COL1A2):c.3135C>T (p.Gly1045=) rs1800248

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