List of variants in gene combination KIRREL2, NPHS1 reported as pathogenic for familial nephrotic syndrome

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_004646.4(NPHS1):c.121_122del (p.Leu41fs)	rs386833873	0.00089
NM_004646.4(NPHS1):c.139del (p.Ala47fs)	rs386833882
NM_004646.4(NPHS1):c.248dup (p.Tyr83Ter)	rs386833914
NM_004646.4(NPHS1):c.249C>G (p.Tyr83Ter)	rs772222126
NM_004646.4(NPHS1):c.44_45dup (p.Leu16fs)	rs1555764281
NM_004646.4(NPHS1):c.67del (p.Gln23fs)

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