List of variants in gene NPHS1 reported as likely pathogenic for 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)	rs267606919	0.00010
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)	rs143649022	0.00003
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)	rs386833880	0.00002
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)	rs386833863	0.00001
NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg)	rs386833892
NM_004646.4(NPHS1):c.2014G>A (p.Ala672Thr)	rs1352354716
NM_004646.4(NPHS1):c.2020C>A (p.Pro674Thr)	rs2146822238
NM_004646.4(NPHS1):c.2506+5G>T	rs762704370
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)	rs386833935
NM_004646.4(NPHS1):c.456del (p.Gln154fs)	rs1973238637
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)	rs386833947
NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle)	rs1555763603
NM_004646.4(NPHS1):c.619del (p.Arg207fs)	rs778217926
NM_004646.4(NPHS1):c.728C>T (p.Pro243Leu)	rs919999972

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