List of variants in gene combination AKAP9, LOC121175350 reported as uncertain significance for congenital anomaly of cardiovascular system

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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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.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.4994A>T (p.Gln1665Leu)	rs763089587	0.00001
NM_005751.5(AKAP9):c.5056C>G (p.Gln1686Glu)	rs764941338	0.00001
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.4970T>C (p.Leu1657Ser)
NM_005751.5(AKAP9):c.4995G>T (p.Gln1665His)
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+2T>C

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