ClinVar Miner

Variants in gene NPHS1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 32
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HGVS dbSNP gnomAD frequency
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.2971G>C (p.Val991Leu) rs34736717 0.03743
NM_004646.4(NPHS1):c.1175T>C (p.Leu392Pro) rs34320609 0.01801
NM_004646.4(NPHS1):c.1930+12G>A rs528950 0.01076
NM_004646.4(NPHS1):c.1930+10C>T rs76131336 0.00977
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile) rs113825926 0.00838
NM_004646.4(NPHS1):c.1758-11C>G rs145554982 0.00802
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00600
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.840+6G>A rs369975773 0.00388
NM_004646.4(NPHS1):c.1758-8T>G rs187501631 0.00387
NM_004646.4(NPHS1):c.1110T>C (p.Val370=) rs116459838 0.00367
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00261
NM_004646.4(NPHS1):c.2072-6C>T rs200253809 0.00191
NM_004646.4(NPHS1):c.397+15C>T rs78237760 0.00180
NM_004646.4(NPHS1):c.1638T>G (p.Thr546=) rs115444936 0.00140
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695 0.00121
NM_004646.4(NPHS1):c.3482-7A>T rs73928326 0.00107
NM_004646.4(NPHS1):c.597G>A (p.Glu199=) rs61731102 0.00101
NM_004646.4(NPHS1):c.803G>A (p.Arg268Gln) rs115308424 0.00085
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449 0.00061
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu) rs114849139 0.00044
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met) rs368913905 0.00027
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile) rs367976914 0.00019
NM_004646.4(NPHS1):c.3321G>A (p.Glu1107=) rs115670171 0.00009
NM_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys) rs370387270 0.00008
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899

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