ClinVar Miner

List of variants in gene combination AKAP9, LOC121175350 reported as likely benign for congenital heart disease

Included ClinVar conditions (290):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005751.5(AKAP9):c.5058+12T>G rs373705132 0.00012
NM_005751.5(AKAP9):c.4971A>G (p.Leu1657=) rs1490213211 0.00001
NM_005751.5(AKAP9):c.5049G>A (p.Thr1683=) rs757137701 0.00001
NM_005751.5(AKAP9):c.4923C>A (p.Ser1641=) rs755109971
NM_005751.5(AKAP9):c.4969T>C (p.Leu1657=)
NM_005751.5(AKAP9):c.4998G>A (p.Leu1666=) rs2130784499
NM_005751.5(AKAP9):c.5058+10A>G
NM_005751.5(AKAP9):c.5058+17C>T rs751101680
NM_005751.5(AKAP9):c.5058+18C>A
NM_005751.5(AKAP9):c.5058+9G>C rs750169072

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