ClinVar Miner

List of variants in gene COL27A1 reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_032888.4(COL27A1):c.3786T>C (p.Tyr1262=) rs2787330 0.79146
NM_032888.4(COL27A1):c.3570T>C (p.Leu1190=) rs4143245 0.41634
NM_032888.4(COL27A1):c.4476+18A>G rs1249738 0.40945
NM_032888.4(COL27A1):c.4846-17G>A rs1546048 0.37018
NM_032888.4(COL27A1):c.1831A>T (p.Ile611Phe) rs2567705 0.33152
NM_032888.4(COL27A1):c.2745C>T (p.Ile915=) rs2014134 0.32914
NM_032888.4(COL27A1):c.3718-19G>T rs2636879 0.32501
NM_032888.4(COL27A1):c.4872+17C>G rs10817586 0.31217
NM_032888.4(COL27A1):c.1610T>C (p.Ile537Thr) rs2808770 0.27554
NM_032888.4(COL27A1):c.1902C>T (p.Gly634=) rs2808771 0.27430
NM_032888.4(COL27A1):c.359A>G (p.Gln120Arg) rs2567706 0.27032
NM_032888.4(COL27A1):c.265G>A (p.Val89Ile) rs2567707 0.21138
NM_032888.4(COL27A1):c.2224-20C>T rs41312204 0.10098
NM_032888.4(COL27A1):c.2334C>T (p.Gly778=) rs34350265 0.07313
NM_032888.4(COL27A1):c.1932A>G (p.Leu644=) rs3810930 0.05539
NM_032888.4(COL27A1):c.4746G>A (p.Ser1582=) rs73656040 0.05318
NM_032888.4(COL27A1):c.5422A>G (p.Met1808Val) rs3736252 0.04628
NM_032888.4(COL27A1):c.2169+12A>G rs41306490 0.04609
NM_032888.4(COL27A1):c.2835+20T>A rs41305461 0.03667
NM_032888.4(COL27A1):c.4368+16C>T rs1249739 0.02982
NM_032888.4(COL27A1):c.2766C>T (p.Gly922=) rs6478073 0.02846
NM_032888.4(COL27A1):c.5154C>T (p.Ile1718=) rs1388095 0.02258
NM_032888.4(COL27A1):c.4965G>A (p.Val1655=) rs1249762 0.02171
NM_032888.4(COL27A1):c.3576T>C (p.Gly1192=) rs34412510 0.02042
NM_032888.4(COL27A1):c.793G>A (p.Ala265Thr) rs34578955 0.01748
NM_032888.4(COL27A1):c.2781+13C>T rs73564683 0.01695
NM_032888.4(COL27A1):c.3888G>A (p.Pro1296=) rs113772516 0.01491
NM_032888.4(COL27A1):c.178G>A (p.Gly60Arg) rs74339956 0.01473
NM_032888.4(COL27A1):c.3878C>T (p.Thr1293Met) rs116496505 0.01423
NM_032888.4(COL27A1):c.939G>A (p.Ala313=) rs35739679 0.01343
NM_032888.4(COL27A1):c.3195+8G>A rs75890035 0.01150
NM_032888.4(COL27A1):c.258G>A (p.Thr86=) rs79824663 0.01124
NM_032888.4(COL27A1):c.3717+19T>A rs111806113 0.01051
NM_032888.4(COL27A1):c.815T>C (p.Leu272Ser) rs151023386 0.00711
NM_032888.4(COL27A1):c.408C>T (p.Val136=) rs146589272 0.00622
NM_032888.4(COL27A1):c.2115G>A (p.Pro705=) rs10982098 0.00603
NM_032888.4(COL27A1):c.785C>A (p.Ser262Tyr) rs148242800 0.00577
NM_032888.4(COL27A1):c.3448-13C>T rs74964165 0.00536
NM_032888.4(COL27A1):c.1617G>A (p.Ser539=) rs145936685 0.00534
NM_032888.4(COL27A1):c.573C>T (p.Leu191=) rs138434112 0.00533
NM_032888.4(COL27A1):c.1045C>T (p.Arg349Cys) rs34973417 0.00522
NM_032888.4(COL27A1):c.2466+15G>T rs72762630 0.00443
NM_032888.4(COL27A1):c.2620-18G>C rs138043453 0.00389
NM_032888.4(COL27A1):c.5058C>T (p.Pro1686=) rs41278651 0.00381
NM_032888.4(COL27A1):c.2295C>T (p.Phe765=) rs138060609 0.00338
NM_032888.4(COL27A1):c.3972A>T (p.Gly1324=) rs147328458 0.00286
NM_032888.4(COL27A1):c.1854G>A (p.Thr618=) rs114789352 0.00277
NM_032888.4(COL27A1):c.2980-3T>C rs7045877 0.00257
NM_032888.4(COL27A1):c.3250-18G>A rs190841467 0.00250
NM_032888.4(COL27A1):c.4701+17C>T rs200938073 0.00222
NM_032888.4(COL27A1):c.1655G>A (p.Arg552Gln) rs148833602 0.00185
NM_032888.4(COL27A1):c.370C>G (p.Leu124Val) rs149948860 0.00185
NM_032888.4(COL27A1):c.3610-18T>G rs374625430 0.00180
NM_032888.4(COL27A1):c.5034G>A (p.Thr1678=) rs150455755 0.00178
NM_032888.4(COL27A1):c.1455T>C (p.Thr485=) rs148709250 0.00163
NM_032888.4(COL27A1):c.840G>T (p.Gly280=) rs139782831 0.00147
NM_032888.4(COL27A1):c.3702C>T (p.Gly1234=) rs62640054 0.00111
NM_032888.4(COL27A1):c.3142-16T>C rs372385762 0.00100
NM_032888.4(COL27A1):c.2071-13C>T rs376995958 0.00085
NM_032888.4(COL27A1):c.2120G>A (p.Arg707Gln) rs181825632 0.00074
NM_032888.4(COL27A1):c.2268+7G>A rs200504966 0.00073
NM_032888.4(COL27A1):c.2646C>T (p.Pro882=) rs148588078 0.00061
NM_032888.4(COL27A1):c.4831C>A (p.Arg1611=) rs139690392 0.00057
NM_032888.4(COL27A1):c.405G>A (p.Thr135=) rs147026086 0.00053
NM_032888.4(COL27A1):c.5168A>G (p.Asn1723Ser) rs146977141 0.00052
NM_032888.4(COL27A1):c.1032T>C (p.Ser344=) rs188197626 0.00051
NM_032888.4(COL27A1):c.152G>A (p.Arg51Gln) rs141549766 0.00051
NM_032888.4(COL27A1):c.3777C>G (p.Ala1259=) rs182885514 0.00040
NM_032888.4(COL27A1):c.4255G>A (p.Val1419Ile) rs138242713 0.00039
NM_032888.4(COL27A1):c.1163C>T (p.Thr388Ile) rs150803564 0.00033
NM_032888.4(COL27A1):c.893C>T (p.Thr298Ile) rs148990468 0.00030
NM_032888.4(COL27A1):c.2113C>T (p.Pro705Ser) rs139039113 0.00026
NM_032888.4(COL27A1):c.612G>A (p.Pro204=) rs147140199 0.00025
NM_032888.4(COL27A1):c.459C>T (p.Asp153=) rs143341894 0.00013
NM_032888.4(COL27A1):c.3747C>T (p.Gly1249=) rs200162485 0.00009
NM_032888.4(COL27A1):c.5430C>T (p.Gly1810=) rs780740644 0.00005
NM_032888.4(COL27A1):c.1041G>C (p.Thr347=) rs774426205 0.00003
NM_032888.4(COL27A1):c.216G>A (p.Ser72=) rs201660579 0.00003
NM_032888.4(COL27A1):c.2682C>T (p.Val894=) rs543598704 0.00003
NM_032888.4(COL27A1):c.2970G>A (p.Val990=) rs544915140 0.00001
NM_032888.4(COL27A1):c.5217+6C>T rs529163366 0.00001
NM_032888.4(COL27A1):c.1264G>A (p.Ala422Thr) rs2241671
NM_032888.4(COL27A1):c.1654C>A (p.Arg552=) rs199557870
NM_032888.4(COL27A1):c.2148G>T (p.Pro716=) rs13290696
NM_032888.4(COL27A1):c.2159C>G (p.Pro720Arg) rs35446342
NM_032888.4(COL27A1):c.3347C>A (p.Pro1116Gln) rs7048607
NM_032888.4(COL27A1):c.3758G>A (p.Arg1253His) rs200928771
NM_032888.4(COL27A1):c.3933+23del
NM_032888.4(COL27A1):c.4261-3del rs1272299980
NM_032888.4(COL27A1):c.4326A>G (p.Gly1442=) rs561100265
NM_032888.4(COL27A1):c.483C>T (p.Leu161=) rs148339655
NM_032888.4(COL27A1):c.5107+23del
NM_032888.4(COL27A1):c.5218-24_5218-15del rs529746417

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