ClinVar Miner

List of variants in gene ACTN4 reported by Preventiongenetics, part of Exact Sciences

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_004924.6(ACTN4):c.546C>T (p.Asn182=) rs3745859 0.39136
NM_004924.6(ACTN4):c.2563T>C (p.Leu855=) rs1136956 0.20720
NM_004924.6(ACTN4):c.537G>A (p.Pro179=) rs11553600 0.14941
NM_004924.6(ACTN4):c.1977T>C (p.Asn659=) rs12986337 0.05559
NM_004924.6(ACTN4):c.398-16C>T rs2287728 0.05415
NM_004924.6(ACTN4):c.246C>T (p.Leu82=) rs77307137 0.02544
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) rs112545413 0.00927
NM_004924.6(ACTN4):c.369C>T (p.Gly123=) rs140381330 0.00875
NM_004924.6(ACTN4):c.1998G>A (p.Gln666=) rs145474119 0.00666
NM_004924.6(ACTN4):c.1611G>A (p.Ala537=) rs150183570 0.00498
NM_004924.6(ACTN4):c.2401G>A (p.Val801Met) rs141727248 0.00403
NM_004924.6(ACTN4):c.1692+10C>G rs199619802 0.00300
NM_004924.6(ACTN4):c.536C>T (p.Pro179Leu) rs149027682 0.00270
NM_004924.6(ACTN4):c.978G>A (p.Gln326=) rs117392350 0.00253
NM_004924.6(ACTN4):c.1770C>T (p.Ile590=) rs140707871 0.00240
NM_004924.6(ACTN4):c.1608C>T (p.Arg536=) rs139575917 0.00232
NM_004924.6(ACTN4):c.2316G>A (p.Ala772=) rs192382222 0.00048
NM_004924.6(ACTN4):c.1144-11C>A rs573020950 0.00007
NM_004924.6(ACTN4):c.2020C>T (p.Arg674Cys)
NM_004924.6(ACTN4):c.2362G>A (p.Glu788Lys)
NM_004924.6(ACTN4):c.2670C>A (p.Asp890Glu) rs113969422

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