ClinVar Miner

List of variants reported as likely benign for Ehlers-Danlos syndrome, cardiac valvular type by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.1036-14G>A rs114322680 0.00338
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460 0.00159
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=) rs139726213 0.00120
NM_000089.4(COL1A2):c.1170C>T (p.Ala390=) rs753455668 0.00002
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573 0.00001

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