ClinVar Miner

List of variants in gene AKAP9, LOC121175350 studied for congenital heart disease

Included ClinVar conditions (290):
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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_005751.5(AKAP9):c.4985C>T (p.Ala1662Val) rs149244653 0.00044
NM_005751.5(AKAP9):c.5048C>T (p.Thr1683Met) rs146305558 0.00014
NM_005751.5(AKAP9):c.5058+12T>G rs373705132 0.00012
NM_005751.5(AKAP9):c.5035C>T (p.Arg1679Cys) rs200044616 0.00010
NM_005751.5(AKAP9):c.4999T>C (p.Ser1667Pro) rs550448097 0.00008
NM_005751.5(AKAP9):c.5036G>A (p.Arg1679His) rs759646439 0.00006
NM_005751.5(AKAP9):c.4945G>A (p.Val1649Ile) rs756966573 0.00001
NM_005751.5(AKAP9):c.4971A>G (p.Leu1657=) rs1490213211 0.00001
NM_005751.5(AKAP9):c.4994A>T (p.Gln1665Leu) rs763089587 0.00001
NM_005751.5(AKAP9):c.5049G>A (p.Thr1683=) rs757137701 0.00001
NM_005751.5(AKAP9):c.5056C>G (p.Gln1686Glu) rs764941338 0.00001
NM_005751.5(AKAP9):c.4923C>A (p.Ser1641=) rs755109971
NM_005751.5(AKAP9):c.4927A>C (p.Ile1643Leu) rs141990258
NM_005751.5(AKAP9):c.4952A>G (p.Glu1651Gly) rs2130784355
NM_005751.5(AKAP9):c.4962G>C (p.Arg1654Ser) rs746465984
NM_005751.5(AKAP9):c.4963del (p.Val1655fs) rs1266814024
NM_005751.5(AKAP9):c.4969T>C (p.Leu1657=)
NM_005751.5(AKAP9):c.4970T>C (p.Leu1657Ser)
NM_005751.5(AKAP9):c.4995G>T (p.Gln1665His)
NM_005751.5(AKAP9):c.4998G>A (p.Leu1666=) rs2130784499
NM_005751.5(AKAP9):c.5014G>A (p.Glu1672Lys)
NM_005751.5(AKAP9):c.5039A>G (p.Asn1680Ser)
NM_005751.5(AKAP9):c.5048C>G (p.Thr1683Arg) rs146305558
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+2T>C
NM_005751.5(AKAP9):c.5058+9G>C rs750169072

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