ClinVar Miner

List of variants in gene ACTN4 studied for Focal segmental glomerulosclerosis 1

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Total variants: 15
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HGVS dbSNP
NM_004924.6(ACTN4):c.1279G>A (p.Ala427Thr) rs201128110
NM_004924.6(ACTN4):c.1826A>G (p.Asn609Ser)
NM_004924.6(ACTN4):c.1977T>C (p.Asn659=) rs12986337
NM_004924.6(ACTN4):c.236G>A (p.Arg79Gln)
NM_004924.6(ACTN4):c.2563T>C (p.Leu855=) rs1136956
NM_004924.6(ACTN4):c.458T>C (p.Phe153Ser) rs1568723797
NM_004924.6(ACTN4):c.510_512del (p.Leu171del) rs1568725026
NM_004924.6(ACTN4):c.537G>A (p.Pro179=) rs11553600
NM_004924.6(ACTN4):c.546C>T (p.Asn182=) rs3745859
NM_004924.6(ACTN4):c.584G>A (p.Gly195Asp) rs878853159
NM_004924.6(ACTN4):c.719T>C (p.Met240Thr) rs1114167420
NM_004924.6(ACTN4):c.763A>G (p.Lys255Glu) rs121908415
NM_004924.6(ACTN4):c.776C>T (p.Thr259Ile) rs121908416
NM_004924.6(ACTN4):c.784T>C (p.Ser262Pro) rs121908417
NM_004924.6(ACTN4):c.832G>A (p.Ala278Thr)

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