ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_018699.4(PRDM5):c.1282+9C>T rs79915407 0.00011
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843 0.00010
NM_000093.5(COL5A1):c.754C>T (p.Pro252Ser) rs369781295 0.00007
NM_000093.5(COL5A1):c.57G>A (p.Leu19=) rs761259908 0.00002
NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile) rs1191721014 0.00002
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr) rs782240483 0.00002
NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu) rs781096189 0.00002
NM_000093.5(COL5A1):c.628C>T (p.Arg210Trp) rs1490728700 0.00001
NM_000302.4(PLOD1):c.71C>G (p.Pro24Arg) rs1438879558 0.00001
NM_000393.5(COL5A2):c.2595G>C (p.Glu865Asp) rs746155819 0.00001
NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu) rs267606815 0.00001
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn) rs1557178278 0.00001
NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser) rs887755283 0.00001
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000093.5(COL5A1):c.1495-7T>A rs1835738568
NM_000093.5(COL5A1):c.1780C>G (p.Arg594Gly) rs1554792869
NM_000093.5(COL5A1):c.2646+16del rs1837447151
NM_000093.5(COL5A1):c.2731C>T (p.Gln911Ter) rs1837850102
NM_000093.5(COL5A1):c.4804_4805insCGTTCTCTACCAGCTGC (p.Val1602fs) rs1839191116
NM_000093.5(COL5A1):c.808G>A (p.Gly270Ser) rs1834748686
NM_000093.5(COL5A1):c.868C>G (p.Pro290Ala) rs754640324
NM_000393.5(COL5A2):c.2955A>G (p.Pro985=) rs1685766586
NM_000393.5(COL5A2):c.3656C>T (p.Pro1219Leu) rs1685515304
NM_000393.5(COL5A2):c.3731T>C (p.Met1244Thr) rs145100971
NM_000393.5(COL5A2):c.4057A>G (p.Lys1353Glu) rs1685449943
NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter) rs782178831
NM_001110556.2(FLNA):c.4265A>G (p.Tyr1422Cys) rs2067685860
NM_001110556.2(FLNA):c.622+5G>C rs2067774568
NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp) rs1555518955
NM_001733.7(C1R):c.646C>A (p.Pro216Thr) rs367700816
NM_004370.6(COL12A1):c.1045T>C (p.Tyr349His) rs1769481285
NM_004370.6(COL12A1):c.2851A>G (p.Lys951Glu) rs1253194188
NM_004370.6(COL12A1):c.7229T>C (p.Ile2410Thr) rs1769231502
NM_004370.6(COL12A1):c.7444A>G (p.Ile2482Val) rs1769138600
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018699.4(PRDM5):c.1312G>A (p.Asp438Asn) rs759022476

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.