ClinVar Miner

List of variants reported as uncertain significance for Connective tissue disorder by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395 0.00119
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985 0.00067
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311 0.00066
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046 0.00037
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr) rs147710374 0.00036
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477 0.00031
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969 0.00029
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922 0.00029
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00023
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) rs147447269 0.00021
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=) rs576332528 0.00010
NM_000089.4(COL1A2):c.395G>A (p.Arg132His) rs372678526 0.00009
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702 0.00008
NM_053025.4(MYLK):c.5369-10T>G rs373584324 0.00008
NM_000089.4(COL1A2):c.1036-3T>C rs370275593 0.00007
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser) rs372499629 0.00007
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn) rs199802059 0.00007
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399 0.00007
NM_080680.3(COL11A2):c.1498C>T (p.Pro500Ser) rs747029402 0.00007
NM_000089.4(COL1A2):c.1876G>A (p.Val626Met) rs374878685 0.00006
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn) rs759131544 0.00006
NM_002474.3(MYH11):c.3010C>G (p.Leu1004Val) rs373358736 0.00006
NM_053025.4(MYLK):c.229G>A (p.Gly77Ser) rs139000120 0.00006
NM_053025.4(MYLK):c.5435C>T (p.Ser1812Phe) rs1007504430 0.00006
NM_053025.4(MYLK):c.774-15C>G rs371552521 0.00006
NM_000393.5(COL5A2):c.3201+14C>T rs368713290 0.00005
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu) rs377026877 0.00005
NM_000089.4(COL1A2):c.286A>G (p.Met96Val) rs763509640 0.00004
NM_001854.4(COL11A1):c.2916+3A>G rs200515572 0.00004
NM_002317.7(LOX):c.1222T>C (p.Tyr408His) rs765126342 0.00004
NM_002474.3(MYH11):c.4900G>A (p.Asp1634Asn) rs549820613 0.00004
NM_017617.5(NOTCH1):c.865+10C>T rs760702631 0.00004
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln) rs767877538 0.00004
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys) rs541842635 0.00003
NM_002474.3(MYH11):c.2924C>T (p.Thr975Met) rs763795192 0.00003
NM_017617.5(NOTCH1):c.2266G>A (p.Glu756Lys) rs1271941628 0.00003
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met) rs112900950 0.00003
NM_000088.4(COL1A1):c.1062A>T (p.Glu354Asp) rs778733293 0.00002
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His) rs137854456 0.00002
NM_000393.5(COL5A2):c.1717-3C>T rs760304144 0.00002
NM_001854.4(COL11A1):c.1350+11G>A rs747505977 0.00002
NM_001854.4(COL11A1):c.4876C>T (p.Pro1626Ser) rs377036654 0.00002
NM_001999.4(FBN2):c.1897A>G (p.Ile633Val) rs748419325 0.00002
NM_003243.5(TGFBR3):c.2027T>C (p.Phe676Ser) rs147485470 0.00002
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys) rs752505638 0.00002
NM_000089.4(COL1A2):c.1198-12A>G rs1292046736 0.00001
NM_000089.4(COL1A2):c.1318C>T (p.Arg440Cys) rs754825427 0.00001
NM_000090.4(COL3A1):c.3526-10C>T rs376171095 0.00001
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys) rs867211079 0.00001
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu) rs771134832 0.00001
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) rs761187818 0.00001
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys) rs730880066 0.00001
NM_000393.5(COL5A2):c.2308G>T (p.Ala770Ser) rs1244308550 0.00001
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr) rs752658223 0.00001
NM_001110556.2(FLNA):c.4843C>T (p.Arg1615Cys) rs1557177091 0.00001
NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly) rs779757924 0.00001
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=) rs925297712 0.00001
NM_001854.4(COL11A1):c.2537C>T (p.Pro846Leu) rs1308067070 0.00001
NM_001854.4(COL11A1):c.2804C>A (p.Pro935His) rs368422725 0.00001
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005 0.00001
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser) rs760065931 0.00001
NM_002474.3(MYH11):c.5483A>T (p.Glu1828Val) rs1365841164 0.00001
NM_006258.4(PRKG1):c.314C>T (p.Ser105Phe) rs1368918637 0.00001
NM_053025.4(MYLK):c.3695C>T (p.Pro1232Leu) rs774553050 0.00001
NM_053025.4(MYLK):c.4620-5C>T rs760680632 0.00001
NM_080680.3(COL11A2):c.1181G>A (p.Gly394Asp) rs1554221958 0.00001
NM_000088.4(COL1A1):c.1387G>A (p.Ala463Thr) rs1555573895
NM_000088.4(COL1A1):c.1456G>A (p.Glu486Lys) rs1171968124
NM_000088.4(COL1A1):c.361G>T (p.Gly121Cys) rs904057644
NM_000088.4(COL1A1):c.3778C>T (p.Arg1260Cys) rs1555571800
NM_000089.4(COL1A2):c.3181C>A (p.Pro1061Thr) rs1554398544
NM_000089.4(COL1A2):c.3710A>G (p.Gln1237Arg) rs1554398713
NM_000089.4(COL1A2):c.475G>A (p.Val159Ile) rs886062514
NM_000089.4(COL1A2):c.779C>T (p.Ala260Val) rs1554395967
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.4(COL3A1):c.1924-8C>A rs1553508534
NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile) rs148146480
NM_000093.5(COL5A1):c.2802C>T (p.Gly934=) rs1554801686
NM_000093.5(COL5A1):c.401G>A (p.Arg134His) rs1442400098
NM_000093.5(COL5A1):c.4954+6G>C rs1031138847
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000138.5(FBN1):c.224C>G (p.Pro75Arg) rs1555405654
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg) rs149203102
NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn) rs754751410
NM_001110556.2(FLNA):c.1066-15C>A rs1557179297
NM_001844.5(COL2A1):c.2236C>T (p.Pro746Ser) rs1179925303
NM_001844.5(COL2A1):c.2819G>C (p.Arg940Pro) rs533540496
NM_001844.5(COL2A1):c.3914G>C (p.Gly1305Ala) rs121912887
NM_001854.4(COL11A1):c.1570C>G (p.Arg524Gly) rs771139447
NM_001854.4(COL11A1):c.2480C>T (p.Pro827Leu) rs1252968708
NM_001854.4(COL11A1):c.328G>A (p.Gly110Arg) rs141978499
NM_001999.4(FBN2):c.2507C>T (p.Thr836Met) rs957177447
NM_002474.3(MYH11):c.5078A>G (p.Gln1693Arg) rs1555551464
NM_003480.4(MFAP5):c.81T>G (p.Asn27Lys) rs1555140533
NM_006258.4(PRKG1):c.298C>T (p.Pro100Ser) rs1554833919
NM_006258.4(PRKG1):c.389T>C (p.Ile130Thr) rs771121101
NM_017617.5(NOTCH1):c.5260G>A (p.Val1754Met) rs1554727492
NM_017617.5(NOTCH1):c.7482G>A (p.Val2494=) rs1268405497
NM_053025.4(MYLK):c.2838C>G (p.His946Gln) rs1200981327
NM_053025.4(MYLK):c.2863T>A (p.Ser955Thr) rs756451726
NM_053025.4(MYLK):c.3626C>G (p.Ser1209Cys) rs1406608470
NM_080680.3(COL11A2):c.4040C>T (p.Pro1347Leu) rs142890313

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