List of variants in gene NPHS1 reported as pathogenic by Athena Diagnostics Inc

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: 10

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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.2335-1G>A	rs150038620	0.00009
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter)	rs386833887	0.00003
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)	rs386833912	0.00002
NM_004646.4(NPHS1):c.2663+2T>G	rs762392183	0.00001
NM_004646.4(NPHS1):c.1745_1749del (p.Lys582fs)
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs)	rs386833921
NM_004646.4(NPHS1):c.2931T>G (p.Tyr977Ter)
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter)	rs139598219
NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle)	rs1555763603

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