ClinVar Miner

List of variants reported as likely benign for Ehlers-Danlos syndrome by Center for Human Genetics, Inc, Center for Human Genetics, Inc

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_000393.5(COL5A2):c.370-16C>T rs148220961 0.00748
NM_000393.5(COL5A2):c.2554-14A>G rs142429770 0.00703
NM_000090.4(COL3A1):c.1816-19T>C rs114299724 0.00647
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000090.4(COL3A1):c.2824-9C>T rs1553509204
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His) rs374527092
NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val) rs140109751

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