ClinVar Miner

List of variants reported as benign for Finnish congenital nephrotic syndrome by Natera, Inc.

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Total variants: 34
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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.3287-54C>T rs113650287 0.09580
NM_004646.4(NPHS1):c.1320C>T (p.Pro440=) rs392702 0.08969
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.294C>T (p.Ile98=) rs2285450 0.04138
NM_004646.4(NPHS1):c.2971G>C (p.Val991Leu) rs34736717 0.03743
NM_004646.4(NPHS1):c.1012+68A>G rs80321803 0.03178
NM_004646.4(NPHS1):c.59-5C>G rs114595892 0.01945
NM_004646.4(NPHS1):c.2927+24G>C rs10426635 0.01442
NM_004646.4(NPHS1):c.1930+12G>A rs528950 0.01172
NM_004646.4(NPHS1):c.1930+10C>T rs76131336 0.01025
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile) rs113825926 0.00863
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg) rs73928330 0.00456
NM_004646.4(NPHS1):c.2223C>T (p.Thr741=) rs2073901 0.00423
NM_004646.4(NPHS1):c.1908C>T (p.Ser636=) rs34761059 0.00420
NM_004646.4(NPHS1):c.3598C>T (p.Pro1200Ser) rs35240811 0.00405
NM_004646.4(NPHS1):c.1926A>G (p.Val642=) rs114728208 0.00397
NM_004646.4(NPHS1):c.1110T>C (p.Val370=) rs116459838 0.00394
NM_004646.4(NPHS1):c.840+6G>A rs369975773 0.00388
NM_004646.4(NPHS1):c.1758-8T>G rs187501631 0.00387
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695 0.00067
NM_004646.4(NPHS1):c.151C>T (p.Leu51=) rs114385015 0.00057
NM_004646.4(NPHS1):c.803G>A (p.Arg268Gln) rs115308424 0.00052
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu) rs114849139 0.00044
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449 0.00041
NM_004646.4(NPHS1):c.528T>C (p.Ser176=) rs539716201 0.00026
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val) rs116617171 0.00023
NM_004646.4(NPHS1):c.-489GA[10] rs139954720
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899

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