ClinVar Miner

List of variants in gene NPHS1 studied for Focal segmental glomerulosclerosis

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Total variants: 37
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HGVS dbSNP gnomAD frequency
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.2971G>C (p.Val991Leu) rs34736717 0.03743
NM_004646.4(NPHS1):c.1175T>C (p.Leu392Pro) rs34320609 0.01801
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile) rs113825926 0.00863
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
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.1170+8G>A rs140808195 0.00400
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.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_004646.4(NPHS1):c.3482-7A>T rs73928326 0.00107
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695 0.00067
NM_004646.4(NPHS1):c.803G>A (p.Arg268Gln) rs115308424 0.00052
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449 0.00041
NM_004646.4(NPHS1):c.3110-5C>T rs190769116 0.00041
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met) rs368913905 0.00027
NM_004646.4(NPHS1):c.528T>C (p.Ser176=) rs539716201 0.00026
NM_004646.4(NPHS1):c.2591G>A (p.Arg864His) rs143986233 0.00013
NM_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys) rs370387270 0.00008
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile) rs367976914 0.00004
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762 0.00004
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp) rs753656470 0.00002
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_004646.4(NPHS1):c.1734G>A (p.Leu578=) rs1973129633
NM_004646.4(NPHS1):c.2512C>T (p.Pro838Ser)
NM_004646.4(NPHS1):c.2517G>A (p.Gln839=)
NM_004646.4(NPHS1):c.2543A>C (p.Lys848Thr)
NM_004646.4(NPHS1):c.3181C>T (p.Pro1061Ser)
NM_004646.4(NPHS1):c.3238T>A (p.Cys1080Ser)
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004646.4(NPHS1):c.888G>T (p.Ala296=)

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