ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, cardiac valvular type by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.2645G>A (p.Arg882His) rs140368271 0.00009
NM_000089.4(COL1A2):c.1036-3T>C rs370275593 0.00007
NM_000089.4(COL1A2):c.368C>A (p.Pro123His) rs1791759808

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