ClinVar Miner

List of variants in gene NPHS1 reported as likely benign for congenital nephrotic syndrome, Finnish type

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_004646.4(NPHS1):c.1170+8G>A rs140808195 0.00400
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482 0.00151
NM_004646.4(NPHS1):c.1638T>G (p.Thr546=) rs115444936 0.00138
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.2869G>C (p.Val957Leu) rs114849139 0.00044
NM_004646.4(NPHS1):c.1620G>C (p.Ala540=) rs375861433 0.00042
NM_004646.4(NPHS1):c.699C>T (p.Thr233=) rs144398621 0.00042
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449 0.00041
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met) rs368913905 0.00027
NM_004646.4(NPHS1):c.3243C>T (p.Val1081=) rs370276697 0.00019
NM_004646.4(NPHS1):c.2482C>A (p.Arg828=) rs142956465 0.00016
NM_004646.4(NPHS1):c.1104G>A (p.Pro368=) rs143178785 0.00015
NM_004646.4(NPHS1):c.1183G>A (p.Gly395Ser) rs372069596 0.00015
NM_004646.4(NPHS1):c.1155G>A (p.Glu385=) rs139509052 0.00014
NM_004646.4(NPHS1):c.1233C>T (p.Asn411=) rs374218631 0.00014
NM_004646.4(NPHS1):c.2874G>T (p.Gly958=) rs752337753 0.00014
NM_004646.4(NPHS1):c.1012+17G>C rs373353156 0.00012
NM_004646.4(NPHS1):c.558C>T (p.Asn186=) rs370625224 0.00012
NM_004646.4(NPHS1):c.1308C>T (p.Asn436=) rs372707993 0.00009
NM_004646.4(NPHS1):c.3321G>A (p.Glu1107=) rs115670171 0.00009
NM_004646.4(NPHS1):c.1113G>C (p.Leu371=) rs547598963 0.00008
NM_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys) rs370387270 0.00008
NM_004646.4(NPHS1):c.3654C>T (p.Asp1218=) rs766025346 0.00007
NM_004646.4(NPHS1):c.1316-6C>T rs756437220 0.00006
NM_004646.4(NPHS1):c.3114C>T (p.Leu1038=) rs373756773 0.00006
NM_004646.4(NPHS1):c.3594+13G>T rs756165265 0.00006
NM_004646.4(NPHS1):c.1185T>C (p.Gly395=) rs149815919 0.00005
NM_004646.4(NPHS1):c.3027C>T (p.Tyr1009=) rs762184939 0.00005
NM_004646.4(NPHS1):c.1998G>T (p.Leu666=) rs569310327 0.00004
NM_004646.4(NPHS1):c.2961T>C (p.Tyr987=) rs201263480 0.00004
NM_004646.4(NPHS1):c.1482G>A (p.Ser494=) rs549535993 0.00003
NM_004646.4(NPHS1):c.1647G>C (p.Thr549=) rs371484897 0.00003
NM_004646.4(NPHS1):c.2664-7T>C rs910612404 0.00003
NM_004646.4(NPHS1):c.2724C>T (p.Asn908=) rs200269176 0.00003
NM_004646.4(NPHS1):c.2148C>T (p.Leu716=) rs760024099 0.00002
NM_004646.4(NPHS1):c.2394G>A (p.Thr798=) rs745911246 0.00002
NM_004646.4(NPHS1):c.2523G>A (p.Glu841=) rs1215088730 0.00002
NM_004646.4(NPHS1):c.841-12C>G rs532123637 0.00002
NM_004646.4(NPHS1):c.915C>T (p.Thr305=) rs751438123 0.00002
NM_004646.4(NPHS1):c.939G>A (p.Ala313=) rs775863701 0.00002
NM_004646.4(NPHS1):c.1899C>T (p.Thr633=) rs748680209 0.00001
NM_004646.4(NPHS1):c.2262G>A (p.Gly754=) rs267605438 0.00001
NM_004646.4(NPHS1):c.2634C>T (p.Asn878=) rs746676515 0.00001
NM_004646.4(NPHS1):c.3201C>T (p.Phe1067=) rs749058353 0.00001
NM_004646.4(NPHS1):c.3546G>A (p.Thr1182=) rs761090110 0.00001
NM_004646.4(NPHS1):c.3555G>A (p.Pro1185=) rs745445890 0.00001
NM_004646.4(NPHS1):c.3594+9C>T rs766396905 0.00001
NM_004646.4(NPHS1):c.393C>T (p.Ile131=) rs181246281 0.00001
NM_004646.4(NPHS1):c.549C>T (p.Ile183=) rs768989615 0.00001
NM_004646.4(NPHS1):c.1065G>A (p.Lys355=) rs966140756
NM_004646.4(NPHS1):c.1131C>T (p.Gly377=) rs1450827580
NM_004646.4(NPHS1):c.1296G>A (p.Ser432=) rs766646699
NM_004646.4(NPHS1):c.1935T>C (p.Arg645=) rs2146822391
NM_004646.4(NPHS1):c.2001C>T (p.Pro667=) rs1437050024
NM_004646.4(NPHS1):c.2072-5C>T rs1973103431
NM_004646.4(NPHS1):c.2259C>T (p.Val753=) rs766951918
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser) rs138173172
NM_004646.4(NPHS1):c.312C>T (p.Ser104=) rs114540811
NM_004646.4(NPHS1):c.3228C>T (p.Ser1076=) rs1003131306
NM_004646.4(NPHS1):c.3249G>C (p.Gly1083=) rs779723501
NM_004646.4(NPHS1):c.3387+9G>A rs1381677154
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.4(NPHS1):c.3438C>T (p.Ser1146=) rs1324557507
NM_004646.4(NPHS1):c.3456G>A (p.Thr1152=) rs138092189
NM_004646.4(NPHS1):c.3482-7A>C rs73928326
NM_004646.4(NPHS1):c.360C>G (p.Pro120=) rs371652869
NM_004646.4(NPHS1):c.415C>T (p.Leu139=) rs2146831286
NM_004646.4(NPHS1):c.429G>A (p.Glu143=) rs1173468417
NM_004646.4(NPHS1):c.570C>T (p.Gly190=) rs1475015789

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