ClinVar Miner

List of variants in gene COL3A1 reported as uncertain significance for not provided

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Total variants: 79
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HGVS dbSNP
NM_000090.3(COL3A1):c.101A>G (p.His34Arg) rs752110396
NM_000090.3(COL3A1):c.1028T>C (p.Phe343Ser) rs794728041
NM_000090.3(COL3A1):c.1030C>T (p.Pro344Ser) rs794728042
NM_000090.3(COL3A1):c.1156C>T (p.Pro386Ser) rs757192342
NM_000090.3(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946
NM_000090.3(COL3A1):c.1188C>T (p.Gly396=) rs745743884
NM_000090.3(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.3(COL3A1):c.1204G>A (p.Gly402Ser) rs1064797017
NM_000090.3(COL3A1):c.1205_1206delinsAA (p.Gly402Glu) rs794728058
NM_000090.3(COL3A1):c.1294G>A (p.Gly432Ser) rs794728045
NM_000090.3(COL3A1):c.1338T>A (p.Arg446=) rs1553507953
NM_000090.3(COL3A1):c.1342G>A (p.Glu448Lys) rs1553507955
NM_000090.3(COL3A1):c.1472G>A (p.Arg491Gln) rs774551212
NM_000090.3(COL3A1):c.1509G>A (p.Lys503=)
NM_000090.3(COL3A1):c.1526G>A (p.Arg509His) rs568986390
NM_000090.3(COL3A1):c.1622G>T (p.Ser541Ile) rs794728046
NM_000090.3(COL3A1):c.1676A>C (p.Glu559Ala) rs794728047
NM_000090.3(COL3A1):c.1758T>C (p.Asn586=) rs756227982
NM_000090.3(COL3A1):c.178G>A (p.Val60Ile) rs762028131
NM_000090.3(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193
NM_000090.3(COL3A1):c.1869+6T>G rs730880063
NM_000090.3(COL3A1):c.1921C>G (p.Gln641Glu) rs794728048
NM_000090.3(COL3A1):c.1924-8_1924-3delCTTTCT rs1553508529
NM_000090.3(COL3A1):c.1975C>A (p.Pro659Thr) rs1064796979
NM_000090.3(COL3A1):c.200G>C (p.Cys67Ser) rs1085307576
NM_000090.3(COL3A1):c.203A>G (p.Asp68Gly) rs376603102
NM_000090.3(COL3A1):c.217G>C (p.Asp73His) rs200246388
NM_000090.3(COL3A1):c.2247A>G (p.Pro749=) rs1553508706
NM_000090.3(COL3A1):c.2381G>A (p.Arg794His) rs1332613006
NM_000090.3(COL3A1):c.2445+19A>G
NM_000090.3(COL3A1):c.2485G>T (p.Ala829Ser) rs755676319
NM_000090.3(COL3A1):c.2490G>A (p.Pro830=) rs777361888
NM_000090.3(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739
NM_000090.3(COL3A1):c.2550T>C (p.Pro850=) rs794727586
NM_000090.3(COL3A1):c.2553+9C>T rs886042219
NM_000090.3(COL3A1):c.2606C>A (p.Pro869His) rs794728052
NM_000090.3(COL3A1):c.2607T>A (p.Pro869=) rs376643618
NM_000090.3(COL3A1):c.2665A>T (p.Asn889Tyr) rs761469859
NM_000090.3(COL3A1):c.2668C>T (p.Pro890Ser) rs794728053
NM_000090.3(COL3A1):c.266C>G (p.Pro89Arg) rs139610730
NM_000090.3(COL3A1):c.2678C>G (p.Pro893Arg) rs1455100373
NM_000090.3(COL3A1):c.2713C>T (p.Pro905Ser) rs112640146
NM_000090.3(COL3A1):c.2723C>T (p.Ala908Val) rs144036995
NM_000090.3(COL3A1):c.2791G>A (p.Glu931Lys) rs1553509193
NM_000090.3(COL3A1):c.2913T>A (p.Pro971=) rs367872728
NM_000090.3(COL3A1):c.2993A>T (p.Gln998Leu)
NM_000090.3(COL3A1):c.3044A>G (p.Asn1015Ser) rs1064796863
NM_000090.3(COL3A1):c.3163G>A (p.Val1055Ile) rs747197616
NM_000090.3(COL3A1):c.3245G>A (p.Arg1082Gln) rs367754862
NM_000090.3(COL3A1):c.3307G>C (p.Ala1103Pro) rs374548570
NM_000090.3(COL3A1):c.3325C>G (p.Arg1109Gly) rs112371422
NM_000090.3(COL3A1):c.3326G>A (p.Arg1109Gln) rs730880062
NM_000090.3(COL3A1):c.3440C>T (p.Pro1147Leu) rs889877870
NM_000090.3(COL3A1):c.3462T>G (p.Ser1154Arg) rs769100283
NM_000090.3(COL3A1):c.3525+3A>C rs1553509674
NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075
NM_000090.3(COL3A1):c.3824-8C>T
NM_000090.3(COL3A1):c.3934C>T (p.Arg1312Trp) rs794728056
NM_000090.3(COL3A1):c.3935G>A (p.Arg1312Gln) rs772919524
NM_000090.3(COL3A1):c.3983T>G (p.Phe1328Cys) rs1553509872
NM_000090.3(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380
NM_000090.3(COL3A1):c.4086C>T (p.Ser1362=) rs779774302
NM_000090.3(COL3A1):c.4088G>C (p.Arg1363Pro) rs1227282800
NM_000090.3(COL3A1):c.4184C>T (p.Ser1395Leu) rs1131691707
NM_000090.3(COL3A1):c.419T>C (p.Ile140Thr) rs750849196
NM_000090.3(COL3A1):c.4254+3A>G rs376799861
NM_000090.3(COL3A1):c.4276A>G (p.Lys1426Glu) rs908421014
NM_000090.3(COL3A1):c.4357G>A (p.Asp1453Asn) rs1131691353
NM_000090.3(COL3A1):c.4358A>T (p.Asp1453Val) rs1049427570
NM_000090.3(COL3A1):c.472T>A (p.Tyr158Asn) rs756125442
NM_000090.3(COL3A1):c.528+5G>A rs794728038
NM_000090.3(COL3A1):c.586T>C (p.Ser196Pro) rs751350498
NM_000090.3(COL3A1):c.645A>C (p.Pro215=) rs1000777138
NM_000090.3(COL3A1):c.706C>T (p.Pro236Ser) rs771858477
NM_000090.3(COL3A1):c.792A>G (p.Gly264=) rs113304344
NM_000090.3(COL3A1):c.803T>C (p.Phe268Ser) rs1318892403
NM_000090.3(COL3A1):c.873C>T (p.Gly291=) rs138569287
NM_000090.3(COL3A1):c.877A>G (p.Asn293Asp) rs1131691328
NM_000090.3(COL3A1):c.879T>A (p.Asn293Lys)

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