ClinVar Miner

List of variants reported for Ehlers-Danlos syndrome, classic type, 2 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00027
NM_000393.5(COL5A2):c.906+9A>G rs761662868 0.00011
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg) rs758412337 0.00007
NM_000393.5(COL5A2):c.389G>A (p.Arg130His) rs377331666 0.00005
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151 0.00002
NM_000393.5(COL5A2):c.2786C>T (p.Ala929Val) rs747843876 0.00001
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600 0.00001
NM_000393.5(COL5A2):c.798+5G>A rs1296613540 0.00001
NM_000393.5(COL5A2):c.1813A>G (p.Ile605Val) rs2105590952
NM_000393.5(COL5A2):c.28C>A (p.Pro10Thr) rs1457897938
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val) rs1211991688

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