ClinVar Miner

Variants in gene COL11A1 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 72
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=) rs147247206 0.00096
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470 0.00070
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00039
NM_001854.4(COL11A1):c.1489-5C>A rs370997745 0.00029
NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala) rs140954784 0.00019
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala) rs55851925 0.00014
NM_001854.4(COL11A1):c.3542A>C (p.Gln1181Pro) rs370534700 0.00013
NM_001854.4(COL11A1):c.1504G>T (p.Asp502Tyr) rs1212773301 0.00012
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile) rs369925361 0.00012
NM_001854.4(COL11A1):c.2453G>A (p.Arg818Gln) rs142523692 0.00011
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161 0.00010
NM_001854.4(COL11A1):c.4661C>T (p.Thr1554Met) rs759287748 0.00009
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro) rs558265763 0.00008
NM_001854.4(COL11A1):c.1853G>A (p.Arg618Gln) rs192313594 0.00007
NM_001854.4(COL11A1):c.2150A>G (p.Gln717Arg) rs142524348 0.00007
NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser) rs199952288 0.00007
NM_001854.4(COL11A1):c.1059A>T (p.Lys353Asn) rs572826781 0.00006
NM_001854.4(COL11A1):c.2246C>T (p.Pro749Leu) rs776773238 0.00006
NM_001854.4(COL11A1):c.3136G>A (p.Gly1046Arg) rs760387652 0.00006
NM_001854.4(COL11A1):c.4328A>C (p.Lys1443Thr) rs769350133 0.00006
NM_001854.4(COL11A1):c.4586T>C (p.Leu1529Pro) rs578137786 0.00006
NM_001854.4(COL11A1):c.1444G>A (p.Ala482Thr) rs150428394 0.00004
NM_001854.4(COL11A1):c.173C>T (p.Thr58Met) rs770162224 0.00004
NM_001854.4(COL11A1):c.3227G>A (p.Arg1076His) rs148464130 0.00004
NM_001854.4(COL11A1):c.1147T>A (p.Phe383Ile) rs368746938 0.00003
NM_001854.4(COL11A1):c.1426C>T (p.Arg476Cys) rs756352775 0.00003
NM_001854.4(COL11A1):c.3868G>T (p.Ala1290Ser) rs370988085 0.00003
NM_001854.4(COL11A1):c.4561G>A (p.Ala1521Thr) rs769920499 0.00003
NM_001854.4(COL11A1):c.1031C>T (p.Thr344Met) rs544289862 0.00002
NM_001854.4(COL11A1):c.2039A>G (p.Asn680Ser) rs375314757 0.00002
NM_001854.4(COL11A1):c.2722G>A (p.Gly908Ser) rs758953085 0.00002
NM_001854.4(COL11A1):c.3361T>G (p.Ser1121Ala) rs778937772 0.00002
NM_001854.4(COL11A1):c.475A>G (p.Ile159Val) rs774693614 0.00002
NM_001854.4(COL11A1):c.1129G>T (p.Asp377Tyr) rs376421641 0.00001
NM_001854.4(COL11A1):c.1321G>A (p.Glu441Lys) rs995254814 0.00001
NM_001854.4(COL11A1):c.1359G>A (p.Met453Ile) rs755173952 0.00001
NM_001854.4(COL11A1):c.1493G>A (p.Arg498His) rs545363972 0.00001
NM_001854.4(COL11A1):c.1624C>T (p.Pro542Ser) rs745841296 0.00001
NM_001854.4(COL11A1):c.1859C>T (p.Pro620Leu) rs777479105 0.00001
NM_001854.4(COL11A1):c.2115A>G (p.Gln705=) rs544663655 0.00001
NM_001854.4(COL11A1):c.2951G>A (p.Arg984His) rs147271219 0.00001
NM_001854.4(COL11A1):c.3077G>A (p.Arg1026His) rs944650989 0.00001
NM_001854.4(COL11A1):c.3185G>A (p.Arg1062His) rs1234848212 0.00001
NM_001854.4(COL11A1):c.3698A>G (p.Asn1233Ser) rs778311240 0.00001
NM_001854.4(COL11A1):c.3869C>G (p.Ala1290Gly) rs199555214 0.00001
NM_001854.4(COL11A1):c.437C>T (p.Pro146Leu) rs543199135 0.00001
NM_001854.4(COL11A1):c.4700A>G (p.Asp1567Gly) rs756511227 0.00001
NM_001854.4(COL11A1):c.4717T>C (p.Ser1573Pro) rs865904271 0.00001
NM_001854.4(COL11A1):c.478G>A (p.Ala160Thr) rs146954848 0.00001
NM_001854.4(COL11A1):c.496C>T (p.Arg166Trp) rs780211105 0.00001
NM_001854.4(COL11A1):c.893C>T (p.Thr298Met) rs398123652 0.00001
NM_001854.4(COL11A1):c.1201T>C (p.Phe401Leu) rs141817156
NM_001854.4(COL11A1):c.1453C>A (p.Leu485Ile) rs536428525
NM_001854.4(COL11A1):c.1718C>T (p.Thr573Met) rs202011565
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[12] rs71752747
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln) rs758825857
NM_001854.4(COL11A1):c.2551C>T (p.Pro851Ser)
NM_001854.4(COL11A1):c.3175C>G (p.Pro1059Ala)
NM_001854.4(COL11A1):c.352A>G (p.Ile118Val)
NM_001854.4(COL11A1):c.361G>A (p.Glu121Lys)
NM_001854.4(COL11A1):c.3817-14_3817-13dup rs34228277
NM_001854.4(COL11A1):c.4303-13dup rs35232764
NM_001854.4(COL11A1):c.4357-16dup rs748850423
NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser) rs75495145
NM_001854.4(COL11A1):c.497G>A (p.Arg166Gln) rs142753283
NM_001854.4(COL11A1):c.560C>A (p.Thr187Lys) rs184606223
NM_001854.4(COL11A1):c.565C>A (p.Pro189Thr) rs201557468
NM_001854.4(COL11A1):c.652-6dup rs36076089
NM_001854.4(COL11A1):c.652-7_652-6dup rs36076089

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