ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, classic type by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.3204+3G>A rs202054108 0.00112
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985 0.00067
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00026
NM_000093.5(COL5A1):c.5137-8C>T rs374377228 0.00017
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600 0.00013
NM_000393.5(COL5A2):c.906+9A>G rs761662868 0.00011
NM_000093.5(COL5A1):c.4068+7G>A rs587780905 0.00009
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg) rs758412337 0.00007
NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His) rs777045810 0.00006
NM_000393.5(COL5A2):c.389G>A (p.Arg130His) rs377331666 0.00006
NM_000093.5(COL5A1):c.2722C>T (p.Pro908Ser) rs144985214 0.00005
NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val) rs369000939 0.00004
NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229 0.00004
NM_000393.5(COL5A2):c.1006-8G>A rs200405052 0.00003
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_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn) rs754984293 0.00001
NM_000393.5(COL5A2):c.2786C>T (p.Ala929Val) rs747843876 0.00001
NM_000393.5(COL5A2):c.798+5G>A rs1296613540 0.00001
NM_000093.5(COL5A1):c.2030A>T (p.Glu677Val) rs1564443811
NM_000093.5(COL5A1):c.2153del (p.Gly718fs) rs2132728639
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter) rs1588621711
NM_000393.5(COL5A2):c.1813A>G (p.Ile605Val) rs2105590952
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.28C>A (p.Pro10Thr) rs1457897938
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val) rs1211991688

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