List of variants in gene ACTN4 reported as likely pathogenic for inherited focal segmental glomerulosclerosis

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_004924.6(ACTN4):c.236G>A (p.Arg79Gln)	rs759055242	0.00001
NM_004924.6(ACTN4):c.175T>C (p.Trp59Arg)	rs1968240092
NM_004924.6(ACTN4):c.458T>C (p.Phe153Ser)	rs1568723797
NM_004924.6(ACTN4):c.493G>A (p.Ala165Thr)
NM_004924.6(ACTN4):c.510_512del (p.Leu171del)	rs1568725026
NM_004924.6(ACTN4):c.517T>C (p.Cys173Arg)
NM_004924.6(ACTN4):c.718A>G (p.Met240Val)

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