List of variants in gene NPHS1 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_004646.4(NPHS1):c.3548dup (p.Tyr1183Ter)	rs756436580	0.00004
NM_004646.4(NPHS1):c.2663+2T>G	rs762392183	0.00001
NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn)	rs386833932	0.00001
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs)	rs1599845714	0.00001
NC_000019.9:g.(36322665_36326606)_(36326664_36330138)del
NC_000019.9:g.(36337097_36338942)_(36340266_36340451)del
NC_000019.9:g.(36337097_36338942)_(36340556_36341265)del
NM_004646.4(NPHS1):c.1020del (p.Ser341fs)	rs1555763372
NM_004646.4(NPHS1):c.1275del (p.Lys426fs)	rs386833876
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs)	rs386833878
NM_004646.4(NPHS1):c.1315+1G>A
NM_004646.4(NPHS1):c.1939G>T (p.Glu647Ter)
NM_004646.4(NPHS1):c.2132G>A (p.Arg711His)
NM_004646.4(NPHS1):c.2387del (p.Gly796fs)	rs1568453378
NM_004646.4(NPHS1):c.2541del (p.Lys848fs)	rs1555761997
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys)	rs778951863
NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter)	rs386833926
NM_004646.4(NPHS1):c.2930A>G (p.Tyr977Cys)	rs2146816353
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter)	rs767887213

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