ClinVar Miner

List of variants in gene NPHS1 reported by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

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Gene type:
ClinVar version:
Total variants: 107
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HGVS dbSNP
NM_004646.3(NPHS1):c.1019C>A (p.Pro340His) rs386833861
NM_004646.3(NPHS1):c.1040G>A (p.Gly347Glu) rs386833862
NM_004646.3(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863
NM_004646.3(NPHS1):c.1096A>C (p.Ser366Arg) rs386833864
NM_004646.3(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865
NM_004646.3(NPHS1):c.1100G>A (p.Arg367His) rs200905486
NM_004646.3(NPHS1):c.1102C>T (p.Pro368Ser) rs386833866
NM_004646.3(NPHS1):c.1103C>T (p.Pro368Leu) rs386833867
NM_004646.3(NPHS1):c.1126C>G (p.Leu376Val) rs386833868
NM_004646.3(NPHS1):c.1134G>A (p.Trp378Ter) rs386833869
NM_004646.3(NPHS1):c.1135C>T (p.Arg379Trp) rs386833871
NM_004646.3(NPHS1):c.1135_1136del (p.Arg379fs) rs386833870
NM_004646.3(NPHS1):c.1138C>T (p.Gln380Ter) rs386833872
NM_004646.3(NPHS1):c.1219C>T (p.Arg407Trp) rs386833874
NM_004646.3(NPHS1):c.121_122del (p.Leu41fs) rs386833873
NM_004646.3(NPHS1):c.1234G>T (p.Gly412Cys) rs142008044
NM_004646.3(NPHS1):c.1250G>T (p.Cys417Phe) rs386833875
NM_004646.3(NPHS1):c.1275del (p.Lys426fs) rs386833876
NM_004646.3(NPHS1):c.1292dup (p.Ser432fs) rs386833877
NM_004646.3(NPHS1):c.1307_1308dup (p.Val437fs) rs386833878
NM_004646.3(NPHS1):c.1337T>A (p.Ile446Asn) rs386833879
NM_004646.3(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880
NM_004646.3(NPHS1):c.1394G>A (p.Cys465Tyr) rs386833881
NM_004646.3(NPHS1):c.139del (p.Ala47fs) rs386833882
NM_004646.3(NPHS1):c.1481del (p.Ser494fs) rs386833883
NM_004646.3(NPHS1):c.1555C>T (p.Pro519Ser) rs386833884
NM_004646.3(NPHS1):c.1583G>T (p.Cys528Phe) rs386833885
NM_004646.3(NPHS1):c.1672C>T (p.Arg558Cys) rs386833886
NM_004646.3(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887
NM_004646.3(NPHS1):c.1707C>G (p.Ser569Arg) rs386833888
NM_004646.3(NPHS1):c.1715G>A (p.Ser572Asn) rs386833889
NM_004646.3(NPHS1):c.1724C>A (p.Pro575Gln) rs386833890
NM_004646.3(NPHS1):c.1758-8_1785del rs386833891
NM_004646.3(NPHS1):c.1760T>G (p.Leu587Arg) rs386833892
NM_004646.3(NPHS1):c.1801G>C (p.Gly601Arg) rs386833893
NM_004646.3(NPHS1):c.1829T>A (p.Leu610Gln) rs386833894
NM_004646.3(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895
NM_004646.3(NPHS1):c.1905C>T (p.Ser635=) rs386833896
NM_004646.3(NPHS1):c.191G>C (p.Trp64Ser) rs386833897
NM_004646.3(NPHS1):c.1928T>C (p.Leu643Pro) rs386833898
NM_004646.3(NPHS1):c.1954C>T (p.Gln652Ter) rs386833899
NM_004646.3(NPHS1):c.2019C>A (p.Asn673Lys) rs191807913
NM_004646.3(NPHS1):c.2043G>T (p.Trp681Cys) rs386833900
NM_004646.3(NPHS1):c.2071+2T>C rs386833901
NM_004646.3(NPHS1):c.2072-6C>G rs200253809
NM_004646.3(NPHS1):c.2126T>G (p.Val709Gly) rs386833902
NM_004646.3(NPHS1):c.2156_2163del (p.Leu719fs) rs386833903
NM_004646.3(NPHS1):c.2160dup (p.Cys721fs) rs386833904
NM_004646.3(NPHS1):c.2171C>G (p.Ser724Cys) rs386833905
NM_004646.3(NPHS1):c.2172_2173del (p.Glu725fs) rs386833906
NM_004646.3(NPHS1):c.2216C>T (p.Ala739Val) rs386833907
NM_004646.3(NPHS1):c.2225T>C (p.Ile742Thr) rs386833908
NM_004646.3(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909
NM_004646.3(NPHS1):c.2227del (p.Arg743fs) rs386833910
NM_004646.3(NPHS1):c.2404C>T (p.Arg802Trp) rs386833911
NM_004646.3(NPHS1):c.2405G>C (p.Arg802Pro) rs114203578
NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912
NM_004646.3(NPHS1):c.2442C>G (p.Tyr814Ter) rs386833913
NM_004646.3(NPHS1):c.248dup (p.Tyr83Ter) rs386833914
NM_004646.3(NPHS1):c.2491C>T (p.Arg831Cys) rs386833915
NM_004646.3(NPHS1):c.2495T>C (p.Leu832Pro) rs386833916
NM_004646.3(NPHS1):c.2500G>T (p.Val834Phe) rs386833917
NM_004646.3(NPHS1):c.2515del (p.Gln839fs) rs386833918
NM_004646.3(NPHS1):c.2549_2558del (p.Ala850fs) rs386833919
NM_004646.3(NPHS1):c.2596C>T (p.Arg866Ter) rs386833920
NM_004646.3(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.3(NPHS1):c.2618_2620delinsCC (p.Phe873fs) rs386833922
NM_004646.3(NPHS1):c.2625G>A (p.Trp875Ter) rs386833923
NM_004646.3(NPHS1):c.2664-4_2670del rs386833924
NM_004646.3(NPHS1):c.2770_2776del (p.Asn924fs) rs386833925
NM_004646.3(NPHS1):c.2783C>A (p.Ser928Ter) rs386833926
NM_004646.3(NPHS1):c.2815+5G>A rs386833927
NM_004646.3(NPHS1):c.2816-4_2822delATAGGCCGCCC rs386833928
NM_004646.3(NPHS1):c.286C>G (p.Leu96Val) rs386833929
NM_004646.3(NPHS1):c.2927+1G>A rs386833930
NM_004646.3(NPHS1):c.2944dup (p.Thr982fs) rs386833931
NM_004646.3(NPHS1):c.313G>A (p.Asp105Asn) rs386833932
NM_004646.3(NPHS1):c.319G>A (p.Ala107Thr) rs386833933
NM_004646.3(NPHS1):c.320C>T (p.Ala107Val) rs386833934
NM_004646.3(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004646.3(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.3(NPHS1):c.3356_3357dup (p.Thr1120fs) rs386833937
NM_004646.3(NPHS1):c.3388-2A>G rs386833938
NM_004646.3(NPHS1):c.3418C>T (p.Arg1140Cys) rs143092783
NM_004646.3(NPHS1):c.3482G>T (p.Gly1161Val) rs386833939
NM_004646.3(NPHS1):c.3595-2A>G rs386833940
NM_004646.3(NPHS1):c.3720_*9del (p.Val1241fs) rs386833941
NM_004646.3(NPHS1):c.398-1G>A rs386833942
NM_004646.3(NPHS1):c.468C>G (p.Tyr156Ter) rs386833943
NM_004646.3(NPHS1):c.479G>C (p.Cys160Ser) rs386833944
NM_004646.3(NPHS1):c.500C>T (p.Pro167Leu) rs386833945
NM_004646.3(NPHS1):c.512T>A (p.Ile171Asn) rs386833946
NM_004646.3(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.3(NPHS1):c.516del (p.Ile173fs) rs386833948
NM_004646.3(NPHS1):c.518T>A (p.Ile173Asn) rs386833949
NM_004646.3(NPHS1):c.526+5G>C rs386833950
NM_004646.3(NPHS1):c.532C>T (p.Gln178Ter) rs386833951
NM_004646.3(NPHS1):c.534del (p.Thr179fs) rs386833952
NM_004646.3(NPHS1):c.574C>T (p.Gln192Ter) rs386833953
NM_004646.3(NPHS1):c.609-2A>C rs386833955
NM_004646.3(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle) rs1555763603
NM_004646.3(NPHS1):c.661_662del (p.Ser221fs) rs386833957
NM_004646.3(NPHS1):c.692C>A (p.Ser231Ter) rs386833958
NM_004646.3(NPHS1):c.736G>T (p.Glu246Ter) rs386833959
NM_004646.3(NPHS1):c.766C>T (p.Arg256Trp) rs386833960
NM_004646.3(NPHS1):c.808G>T (p.Gly270Cys) rs386833961
NM_004646.3(NPHS1):c.886G>A (p.Ala296Thr) rs386833962

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