List of variants in gene NPHS1 reported by Genome Diagnostics Laboratory, University Medical Center Utrecht

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_004646.4(NPHS1):c.3315G>A (p.Ser1105=)	rs2071327	0.31318
NM_004646.4(NPHS1):c.349G>A (p.Glu117Lys)	rs3814995	0.25613
NM_004646.4(NPHS1):c.2289C>T (p.Val763=)	rs437168	0.15697
NM_004646.4(NPHS1):c.3230A>G (p.Asn1077Ser)	rs4806213	0.10689
NM_004646.4(NPHS1):c.3595-9G>T	rs77309273	0.05118
NM_004646.4(NPHS1):c.1223G>A (p.Arg408Gln)	rs33950747	0.04436
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala)	rs115333628	0.00116
NM_004646.4(NPHS1):c.803G>A (p.Arg268Gln)	rs115308424	0.00052
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)	rs386833895	0.00007
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)	rs386833935
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser)	rs143092783
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg)	rs34982899

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