ClinVar Miner

List of variants in gene COL1A2 studied for Ehlers-Danlos syndrome type 7B

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_000089.4(COL1A2):c.1036-3T>C rs370275593 0.00007
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser) rs749621872 0.00002
NM_000089.4(COL1A2):c.*654_*655insGTTGTCC rs3917
NM_000089.4(COL1A2):c.1252-6del rs886062516
NM_000089.4(COL1A2):c.3226C>T (p.Pro1076Ser) rs763974489
NM_000089.4(COL1A2):c.432+2T>A rs2115876295
NM_000089.4(COL1A2):c.71C>G (p.Ser24Cys) rs763546006

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