List of variants in gene KIRREL2, NPHS1 studied for Congenital nephrotic syndrome

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_004646.4(NPHS1):c.-81C>G	rs73928331	0.07158
NM_004646.4(NPHS1):c.59-5C>G	rs114595892	0.01814
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg)	rs73928330	0.00436
NM_004646.4(NPHS1):c.-140G>A	rs79692855	0.00423
NM_004646.4(NPHS1):c.-57G>T	rs140404523	0.00386
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala)	rs140626538	0.00192
NM_004646.4(NPHS1):c.-61G>A	rs75799457	0.00171
NM_004646.4(NPHS1):c.151C>T (p.Leu51=)	rs114385015	0.00084
NM_004646.4(NPHS1):c.14C>T (p.Thr5Met)	rs191850409	0.00026
NM_004646.4(NPHS1):c.-31C>T	rs376050812	0.00024
NM_004646.4(NPHS1):c.126G>T (p.Thr42=)	rs145683325	0.00022
NM_004646.4(NPHS1):c.25G>A (p.Ala9Thr)	rs376793744	0.00011
NM_004646.4(NPHS1):c.115G>A (p.Glu39Lys)	rs375670819	0.00005
NM_004646.4(NPHS1):c.218C>T (p.Pro73Leu)	rs752777463	0.00001

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