ClinVar Miner

List of variants in gene COL3A1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=) rs1801184 0.27758
NM_000090.4(COL3A1):c.1293+15T>A rs2271679 0.13320
NM_000090.4(COL3A1):c.3525+19del rs138061246 0.01120
NM_000090.4(COL3A1):c.80-16C>T rs28763875 0.00914
NM_000090.4(COL3A1):c.583-8C>T rs10166835 0.00713
NM_000090.4(COL3A1):c.1816-19T>C rs114299724 0.00647
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00608
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=) rs41263751 0.00443
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=) rs35759441 0.00430
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=) rs41263757 0.00244
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000090.4(COL3A1):c.130G>A (p.Val44Ile) rs79632685 0.00162
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683 0.00158
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775 0.00146
NM_000090.4(COL3A1):c.1051-13G>A rs371934572 0.00093
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247 0.00080
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe) rs111391222 0.00061
NM_000090.4(COL3A1):c.3202-14del rs767971610 0.00059
NM_000090.4(COL3A1):c.114C>G (p.Ser38=) rs141241764 0.00054
NM_000090.4(COL3A1):c.1476A>C (p.Gly492=) rs111683983 0.00045
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00023
NM_000090.4(COL3A1):c.1977+9C>T rs184223621 0.00021
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=) rs111567071 0.00018
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=) rs779774302 0.00017
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile) rs371583734 0.00017
NM_000090.4(COL3A1):c.1617C>T (p.Pro539=) rs141091206 0.00016
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380 0.00014
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His) rs370069953 0.00013
NM_000090.4(COL3A1):c.3537C>A (p.Gly1179=) rs146837092 0.00012
NM_000090.4(COL3A1):c.1694C>A (p.Pro565His) rs144260440 0.00011
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp) rs142045411 0.00011
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739 0.00009
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn) rs756125442 0.00007
NM_000090.4(COL3A1):c.1156C>T (p.Pro386Ser) rs757192342 0.00006
NM_000090.4(COL3A1):c.2913T>G (p.Pro971=) rs367872728 0.00006
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440 0.00006
NM_000090.4(COL3A1):c.3228C>T (p.Pro1076=) rs200917999 0.00006
NM_000090.4(COL3A1):c.546C>T (p.Pro182=) rs754584062 0.00006
NM_000090.4(COL3A1):c.2489C>T (p.Pro830Leu) rs886038849 0.00004
NM_000090.4(COL3A1):c.3336T>C (p.Pro1112=) rs749357239 0.00004
NM_000090.4(COL3A1):c.3433A>G (p.Ser1145Gly) rs147706051 0.00004
NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr) rs550665335 0.00004
NM_000090.4(COL3A1):c.1816-4T>C rs765128089 0.00003
NM_000090.4(COL3A1):c.2038C>T (p.Pro680Ser) rs372027308 0.00003
NM_000090.4(COL3A1):c.2125G>T (p.Ala709Ser) rs201468881 0.00003
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=) rs794727586 0.00003
NM_000090.4(COL3A1):c.1885A>G (p.Lys629Glu) rs1466862530 0.00002
NM_000090.4(COL3A1):c.3145C>A (p.Pro1049Thr) rs775562650 0.00002
NM_000090.4(COL3A1):c.3653C>T (p.Pro1218Leu) rs763901831 0.00002
NM_000090.4(COL3A1):c.4338C>T (p.Pro1446=) rs376207711 0.00002
NM_000090.4(COL3A1):c.582+12C>T rs41272799 0.00002
NM_000090.4(COL3A1):c.696A>G (p.Glu232=) rs193922177 0.00002
NM_000090.4(COL3A1):c.1050+7_1050+8del rs759415640 0.00001
NM_000090.4(COL3A1):c.1455+12A>G rs752647323 0.00001
NM_000090.4(COL3A1):c.1509+7A>C rs201740954 0.00001
NM_000090.4(COL3A1):c.1557A>C (p.Gly519=) rs754318905 0.00001
NM_000090.4(COL3A1):c.178G>A (p.Val60Ile) rs762028131 0.00001
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser) rs772638774 0.00001
NM_000090.4(COL3A1):c.1972G>A (p.Glu658Lys) rs189846410 0.00001
NM_000090.4(COL3A1):c.2048G>A (p.Arg683His) rs753162027 0.00001
NM_000090.4(COL3A1):c.2607+10G>A rs367789349 0.00001
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=) rs376643618 0.00001
NM_000090.4(COL3A1):c.2627G>C (p.Gly876Ala) rs1158155272 0.00001
NM_000090.4(COL3A1):c.2766A>G (p.Pro922=) rs915948354 0.00001
NM_000090.4(COL3A1):c.289C>T (p.Arg97Cys) rs768671254 0.00001
NM_000090.4(COL3A1):c.303T>C (p.Gly101=) rs1688040630 0.00001
NM_000090.4(COL3A1):c.3071G>A (p.Arg1024Gln) rs1484867480 0.00001
NM_000090.4(COL3A1):c.3163G>A (p.Val1055Ile) rs747197616 0.00001
NM_000090.4(COL3A1):c.3824-11T>G rs766096022 0.00001
NM_000090.4(COL3A1):c.4254+10A>G rs1045801346 0.00001
NM_000090.4(COL3A1):c.4273A>G (p.Ser1425Gly) rs1415901923 0.00001
NM_000090.4(COL3A1):c.4276A>G (p.Lys1426Glu) rs908421014 0.00001
NM_000090.4(COL3A1):c.4300C>T (p.Arg1434Cys) rs747324731 0.00001
NM_000090.4(COL3A1):c.745-7T>C rs776306752 0.00001
NM_000090.4(COL3A1):c.803T>C (p.Phe268Ser) rs1318892403 0.00001
NM_000090.4(COL3A1):c.1106G>T (p.Gly369Val) rs1057521930
NM_000090.4(COL3A1):c.1297G>A (p.Glu433Lys) rs150670470
NM_000090.4(COL3A1):c.1450G>A (p.Glu484Lys) rs1559056497
NM_000090.4(COL3A1):c.1509+7_1509+21del rs781662866
NM_000090.4(COL3A1):c.1618G>A (p.Gly540Arg) rs587779584
NM_000090.4(COL3A1):c.1661C>T (p.Pro554Leu) rs1688305869
NM_000090.4(COL3A1):c.1691G>C (p.Gly564Ala) rs193922176
NM_000090.4(COL3A1):c.1762G>A (p.Gly588Ser) rs1553508338
NM_000090.4(COL3A1):c.1924-14A>T
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.4(COL3A1):c.2022+17T>C
NM_000090.4(COL3A1):c.2237C>G (p.Pro746Arg) rs2153503064
NM_000090.4(COL3A1):c.2247A>G (p.Pro749=) rs1553508706
NM_000090.4(COL3A1):c.2500G>C (p.Gly834Arg) rs2153503381
NM_000090.4(COL3A1):c.2607+14C>T
NM_000090.4(COL3A1):c.2608-17A>G
NM_000090.4(COL3A1):c.2914G>A (p.Gly972Ser) rs587779723
NM_000090.4(COL3A1):c.2950G>A (p.Gly984Arg) rs2153503630
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser) rs587779704
NM_000090.4(COL3A1):c.3103G>T (p.Gly1035Cys) rs587779704
NM_000090.4(COL3A1):c.3201+20A>G rs2153503735
NM_000090.4(COL3A1):c.3222T>G (p.Gly1074=) rs1060503873
NM_000090.4(COL3A1):c.334-11C>G
NM_000090.4(COL3A1):c.3417+1G>A rs587779444
NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu) rs587779495
NM_000090.4(COL3A1):c.343G>T (p.Gly115Cys) rs964468427
NM_000090.4(COL3A1):c.3740G>C (p.Ser1247Thr)
NM_000090.4(COL3A1):c.4011+10del
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.4(COL3A1):c.4182G>A (p.Gly1394=)
NM_000090.4(COL3A1):c.4194T>C (p.Gly1398=) rs1054676420
NM_000090.4(COL3A1):c.4205C>T (p.Ala1402Val)
NM_000090.4(COL3A1):c.447+1G>A rs1559053022
NM_000090.4(COL3A1):c.448-6C>A rs751856761
NM_000090.4(COL3A1):c.528+5G>A rs794728038
NM_000090.4(COL3A1):c.554C>G (p.Pro185Arg) rs886038977
NM_000090.4(COL3A1):c.55A>G (p.Thr19Ala) rs1300339107
NM_000090.4(COL3A1):c.660T>C (p.Ala220=)
NM_000090.4(COL3A1):c.716C>A (p.Pro239His) rs1688155467
NM_000090.4(COL3A1):c.745-10T>C rs1048016555
NM_000090.4(COL3A1):c.76G>C (p.Glu26Gln) rs1687767912
NM_000090.4(COL3A1):c.79+7A>T rs1687768235
NM_000090.4(COL3A1):c.937_938dup (p.Pro314fs) rs772827388
NM_000090.4(COL3A1):c.951+4A>T rs587779598
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp) rs587779673

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