ClinVar Miner

List of variants reported as benign for 22q11.2 deletion syndrome by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_005992.1(TBX1):c.303_305GAA[2] (p.Lys103del) rs369050575
NM_080647.1(TBX1):c.-882C>T rs41298629
NM_080647.1(TBX1):c.1353T>C (p.His451=) rs367711718
NM_080647.1(TBX1):c.1397C>T (p.Ala466Val) rs753613632
NM_080647.1(TBX1):c.297G>A (p.Ala99=) rs72646953
NM_080647.1(TBX1):c.444C>T (p.Phe148=) rs139776757
NM_080647.1(TBX1):c.492G>A (p.Pro164=) rs111754814
NM_080647.1(TBX1):c.813C>T (p.Thr271=) rs61730282
NM_080647.1(TBX1):c.928G>A (p.Gly310Ser) rs41298838

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