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 (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000093.4(COL5A1):c.2030A>T (p.Glu677Val) rs1564443811
NM_000093.4(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229
NM_000093.4(COL5A1):c.3204+3G>A rs202054108
NM_000093.4(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.4(COL5A1):c.4068+7G>A rs587780905
NM_000093.4(COL5A1):c.5348G>A (p.Arg1783His) rs777045810
NM_000093.4(COL5A1):c.583G>A (p.Asp195Asn) rs781248560
NM_000393.5(COL5A2):c.1006-8G>A rs200405052
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600
NM_000393.5(COL5A2):c.798+5G>A rs1296613540
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val) rs1211991688

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