ClinVar Miner

List of variants in gene COL5A1 reported as pathogenic for Ehlers-Danlos syndrome, classic type

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Total variants: 48
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HGVS dbSNP
GRCh37/hg19 9q34.3(chr9:137496881-137648441)
NC_000009.11:g.(?_137534024)_(137660319_?)del
NC_000009.11:g.(?_137582738)_(137655603_?)del
NC_000009.11:g.(?_137582748)_(137619253_?)del
NC_000009.11:g.(?_137591735)_(137591988_?)del
NC_000009.11:g.(?_137644415)_(137644511_?)del
NM_000093.4(COL5A1):c.1075G>T (p.Glu359Ter) rs769752636
NM_000093.4(COL5A1):c.1364del (p.Lys455fs) rs1564418237
NM_000093.4(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.4(COL5A1):c.1720-136_1929del
NM_000093.4(COL5A1):c.1780C>T (p.Arg594Ter) rs1554792869
NM_000093.4(COL5A1):c.2034+1G>A rs886042173
NM_000093.4(COL5A1):c.2143G>T (p.Gly715Ter) rs1060502258
NM_000093.4(COL5A1):c.2164C>T (p.Gln722Ter) rs1564446117
NM_000093.4(COL5A1):c.2203dup (p.Gln735fs) rs1057519596
NM_000093.4(COL5A1):c.226_227AG[1] (p.Arg76fs) rs1060502242
NM_000093.4(COL5A1):c.2374C>T (p.Arg792Ter) rs121912933
NM_000093.4(COL5A1):c.2389delG rs1564453833
NM_000093.4(COL5A1):c.2425G>T (p.Glu809Ter)
NM_000093.4(COL5A1):c.2430+1G>A rs1060502248
NM_000093.4(COL5A1):c.2565del (p.Gly856fs) rs1564457102
NM_000093.4(COL5A1):c.2660del (p.Phe887fs)
NM_000093.4(COL5A1):c.2701-25T>G rs765079080
NM_000093.4(COL5A1):c.2734C>T (p.Arg912Ter) rs863223478
NM_000093.4(COL5A1):c.2897del (p.Pro966fs) rs1179967153
NM_000093.4(COL5A1):c.2952+2_2952+3del
NM_000093.4(COL5A1):c.297_304dup (p.Ile102fs)
NM_000093.4(COL5A1):c.2988del (p.Gly997fs) rs764693725
NM_000093.4(COL5A1):c.2988dup (p.Gly997fs) rs764693725
NM_000093.4(COL5A1):c.3184C>T (p.Arg1062Ter) rs387906606
NM_000093.4(COL5A1):c.3259_3366del (p.Ser1088_Gly1123del)
NM_000093.4(COL5A1):c.3309_3325dup (p.Pro1109fs) rs1564471440
NM_000093.4(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_000093.4(COL5A1):c.3684del (p.Leu1229fs) rs1564475090
NM_000093.4(COL5A1):c.3746delG rs35002351
NM_000093.4(COL5A1):c.3752del (p.Pro1251fs) rs786205100
NM_000093.4(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000093.4(COL5A1):c.3762del (p.Gly1255fs) rs1057518653
NM_000093.4(COL5A1):c.3805C>T (p.Gln1269Ter) rs1554805142
NM_000093.4(COL5A1):c.3906+3G>T rs786200922
NM_000093.4(COL5A1):c.4126dup (p.Ser1376fs) rs1131691820
NM_000093.4(COL5A1):c.4203del (p.Gly1402fs) rs1060502255
NM_000093.4(COL5A1):c.4232delG rs1060502259
NM_000093.4(COL5A1):c.4338+1G>A rs1564481053
NM_000093.4(COL5A1):c.4339-1delG rs786205102
NM_000093.4(COL5A1):c.494G>A (p.Trp165Ter)
NM_000093.4(COL5A1):c.655-2A>G rs786205101
NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs) rs1554803622

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