ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, classic type

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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.787-15G>A rs150200872 0.00704
NM_000093.5(COL5A1):c.3204+3G>A rs202054108 0.00112
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985 0.00067
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu) rs142114921 0.00031
NM_000093.5(COL5A1):c.2331+16G>A rs199654385 0.00028
NM_000093.5(COL5A1):c.5137-8C>T rs374377228 0.00017
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600 0.00013
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553 0.00011
NM_000093.5(COL5A1):c.2700+191C>T rs183885286 0.00011
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858 0.00011
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln) rs781667754 0.00010
NM_000093.5(COL5A1):c.292G>A (p.Glu98Lys) rs369126350 0.00009
NM_000093.5(COL5A1):c.4068+7G>A rs587780905 0.00009
NM_000093.5(COL5A1):c.2114C>T (p.Pro705Leu) rs375456811 0.00006
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp) rs886063676 0.00006
NM_000093.5(COL5A1):c.4892C>T (p.Thr1631Met) rs764446683 0.00006
NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His) rs777045810 0.00006
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser) rs770554435 0.00006
NM_000393.5(COL5A2):c.389G>A (p.Arg130His) rs377331666 0.00006
NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln) rs759580799 0.00005
NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229 0.00004
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663 0.00003
NM_000093.5(COL5A1):c.4909C>T (p.Arg1637Cys) rs753433375 0.00003
NM_000393.5(COL5A2):c.1006-8G>A rs200405052 0.00003
NM_000093.5(COL5A1):c.1291G>A (p.Gly431Arg) rs962170388 0.00002
NM_000093.5(COL5A1):c.4739C>T (p.Ala1580Val) rs528826181 0.00002
NM_000093.5(COL5A1):c.4753C>T (p.Arg1585Trp) rs546865410 0.00002
NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp) rs558906147 0.00002
NM_000093.5(COL5A1):c.5371-8T>C rs1352923765 0.00002
NM_000093.5(COL5A1):c.583G>A (p.Asp195Asn) rs781248560 0.00002
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151 0.00002
NM_002474.3(MYH11):c.2139G>C (p.Gln713His) rs779897931 0.00002
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser) rs867576281 0.00002
NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu) rs751337133 0.00001
NM_000093.5(COL5A1):c.1462C>T (p.Pro488Ser) rs1238395732 0.00001
NM_000093.5(COL5A1):c.2174A>G (p.Asn725Ser) rs142612655 0.00001
NM_000093.5(COL5A1):c.2723C>T (p.Pro908Leu) rs772211736 0.00001
NM_000093.5(COL5A1):c.492-3C>T rs1027866868 0.00001
NM_000393.5(COL5A2):c.1681G>A (p.Gly561Arg) rs1184276149 0.00001
NM_000393.5(COL5A2):c.2344A>G (p.Ile782Val) rs1270917752 0.00001
NM_000393.5(COL5A2):c.2786C>T (p.Ala929Val) rs747843876 0.00001
NM_000393.5(COL5A2):c.3363+2T>C rs1559076442 0.00001
NM_000393.5(COL5A2):c.798+5G>A rs1296613540 0.00001
NC_000002.12:g.(?_189078506)_(189081053_?)del
NC_000002.12:g.(?_189100087)_(189100159_?)del
NC_000009.11:g.(?_134379574)_(138678377_?)dup
NC_000009.11:g.(?_137533651)_(137534142_?)dup
NC_000009.11:g.(?_137721802)_(137734169_?)dup
NC_000009.12:g.(?_134690892)_(134691099_?)del
NC_000009.12:g.(?_134727246)_(134728827_?)del
NC_000009.12:g.(?_134789143)_(134789218_?)dup
NC_000009.12:g.(?_134842137)_(134842323_?)del
NC_000009.12:g.(?_134842147)_(134842313_?)del
NM_000093.5(COL5A1):c.1441G>A (p.Gly481Arg) rs1835194865
NM_000093.5(COL5A1):c.1544C>T (p.Pro515Leu) rs1449896543
NM_000093.5(COL5A1):c.2030A>T (p.Glu677Val) rs1564443811
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.5(COL5A1):c.384del (p.Ile128fs) rs1833612720
NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=) rs773853291
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.5(COL5A1):c.4447G>T (p.Gly1483Cys) rs1554806963
NM_000093.5(COL5A1):c.515T>A (p.Val172Asp) rs1554781678
NM_000093.5(COL5A1):c.5473C>T (p.Gln1825Ter) rs1057518004
NM_000093.5(COL5A1):c.710G>A (p.Cys237Tyr) rs1588475947
NM_000393.5(COL5A2):c.1332_1349del (p.Ala446_Ser451del) rs1686191596
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.2602C>A (p.Gln868Lys) rs1553514451
NM_000393.5(COL5A2):c.28C>A (p.Pro10Thr) rs1457897938
NM_000393.5(COL5A2):c.3103G>A (p.Gly1035Arg) rs1685735868
NM_000393.5(COL5A2):c.3854C>T (p.Pro1285Leu) rs867460091
NM_000393.5(COL5A2):c.4069A>T (p.Asn1357Tyr) rs1157866285
NM_000393.5(COL5A2):c.4163C>A (p.Thr1388Asn) rs771415085
NM_000393.5(COL5A2):c.668C>T (p.Pro223Leu) rs201941612
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val) rs1211991688
NM_001110556.2(FLNA):c.4528A>C (p.Asn1510His) rs1557177310
NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro) rs1555887820
Single allele

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