ClinVar Miner

List of variants in gene combination KIRREL2, NPHS1 studied for not provided

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Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.-340G>C rs1137844 0.25138
NM_004646.3(NPHS1):c.-170T>C rs401824 0.16554
NM_004646.4(NPHS1):c.-81C>G rs73928331 0.07300
NM_004646.4(NPHS1):c.59-5C>G rs114595892 0.01945
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg) rs73928330 0.00456
NM_004646.4(NPHS1):c.-140G>A rs79692855 0.00423
NM_004646.4(NPHS1):c.-57G>T rs140404523 0.00403
NM_004646.4(NPHS1):c.59-19C>A rs115350784 0.00214
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala) rs140626538 0.00205
NM_004646.4(NPHS1):c.121_122del (p.Leu41fs) rs386833873 0.00089
NM_004646.4(NPHS1):c.151C>T (p.Leu51=) rs114385015 0.00057
NM_004646.4(NPHS1):c.246G>A (p.Arg82=) rs369681703 0.00042
NM_004646.4(NPHS1):c.14C>T (p.Thr5Met) rs191850409 0.00026
NM_004646.4(NPHS1):c.219C>T (p.Pro73=) rs115599462 0.00026
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val) rs116617171 0.00023
NM_004646.4(NPHS1):c.126G>T (p.Thr42=) rs145683325 0.00022
NM_004646.4(NPHS1):c.115G>A (p.Glu39Lys) rs375670819 0.00006
NM_004646.4(NPHS1):c.25G>A (p.Ala9Thr) rs376793744 0.00006
NM_004646.4(NPHS1):c.182C>T (p.Ala61Val) rs116620503 0.00005
NM_004646.4(NPHS1):c.274+7G>A rs375552437 0.00004
NM_004646.4(NPHS1):c.177C>A (p.Gly59=) rs747108392 0.00003
NM_004646.4(NPHS1):c.216C>A (p.Gly72=) rs764300734 0.00003
NM_004646.4(NPHS1):c.243G>A (p.Pro81=) rs116288626 0.00003
NM_004646.4(NPHS1):c.58+7G>C rs1315632845 0.00003
NM_004646.4(NPHS1):c.87C>T (p.Ser29=) rs544235158 0.00003
NM_004646.4(NPHS1):c.59-15G>A rs758002457 0.00002
NM_004646.4(NPHS1):c.105G>A (p.Trp35Ter) rs1450477596 0.00001
NM_004646.4(NPHS1):c.144A>C (p.Ser48=) rs775477921 0.00001
NM_004646.4(NPHS1):c.18G>A (p.Thr6=) rs370650840 0.00001
NM_004646.4(NPHS1):c.250C>T (p.Arg84Cys) rs1168071834 0.00001
NM_004646.4(NPHS1):c.44G>A (p.Gly15Glu) rs373782564 0.00001
NM_004646.4(NPHS1):c.84C>T (p.Ala28=) rs763497264 0.00001
NM_004646.4(NPHS1):c.-260G>A rs200937871
NM_004646.4(NPHS1):c.-261del rs10566018
NM_004646.4(NPHS1):c.-262_-261del rs10566018
NM_004646.4(NPHS1):c.-263_-261del rs10566018
NM_004646.4(NPHS1):c.-387G>A rs75343898
NM_004646.4(NPHS1):c.-489GA[10] rs139954720
NM_004646.4(NPHS1):c.103del (p.Trp35fs)
NM_004646.4(NPHS1):c.104G>A (p.Trp35Ter)
NM_004646.4(NPHS1):c.108C>A (p.Ala36=)
NM_004646.4(NPHS1):c.123G>C (p.Leu41=) rs2146832792
NM_004646.4(NPHS1):c.129G>A (p.Val43=) rs2146832776
NM_004646.4(NPHS1):c.129G>C (p.Val43=) rs2146832776
NM_004646.4(NPHS1):c.12G>A (p.Gly4=) rs2146833569
NM_004646.4(NPHS1):c.12del (p.Thr5fs)
NM_004646.4(NPHS1):c.133G>A (p.Glu45Lys)
NM_004646.4(NPHS1):c.134_135del (p.Glu45fs)
NM_004646.4(NPHS1):c.135G>A (p.Glu45=)
NM_004646.4(NPHS1):c.138G>A (p.Gly46=)
NM_004646.4(NPHS1):c.139del (p.Ala47fs) rs386833882
NM_004646.4(NPHS1):c.141C>T (p.Ala47=)
NM_004646.4(NPHS1):c.153G>A (p.Leu51=) rs771294699
NM_004646.4(NPHS1):c.155G>A (p.Arg52His)
NM_004646.4(NPHS1):c.156T>C (p.Arg52=)
NM_004646.4(NPHS1):c.15G>A (p.Thr5=) rs1047757821
NM_004646.4(NPHS1):c.162G>A (p.Gly54=)
NM_004646.4(NPHS1):c.163_164insA (p.Val55fs)
NM_004646.4(NPHS1):c.165C>T (p.Val55=)
NM_004646.4(NPHS1):c.171C>A (p.Thr57=) rs2146832649
NM_004646.4(NPHS1):c.174T>C (p.Pro58=)
NM_004646.4(NPHS1):c.177C>G (p.Gly59=) rs747108392
NM_004646.4(NPHS1):c.17C>T (p.Thr6Met)
NM_004646.4(NPHS1):c.183G>A (p.Ala61=) rs779563002
NM_004646.4(NPHS1):c.18G>T (p.Thr6=) rs370650840
NM_004646.4(NPHS1):c.204G>A (p.Gly68=) rs2146832516
NM_004646.4(NPHS1):c.205C>T (p.Leu69=) rs2146832511
NM_004646.4(NPHS1):c.207G>A (p.Leu69=) rs780892794
NM_004646.4(NPHS1):c.210C>T (p.Leu70=)
NM_004646.4(NPHS1):c.212T>C (p.Leu71Pro) rs1568457698
NM_004646.4(NPHS1):c.212del (p.Leu71fs)
NM_004646.4(NPHS1):c.216C>T (p.Gly72=)
NM_004646.4(NPHS1):c.225C>G (p.Pro75=)
NM_004646.4(NPHS1):c.225del (p.Arg76fs)
NM_004646.4(NPHS1):c.234A>C (p.Pro78=)
NM_004646.4(NPHS1):c.240C>T (p.Phe80=) rs2146832398
NM_004646.4(NPHS1):c.243G>C (p.Pro81=) rs116288626
NM_004646.4(NPHS1):c.248dup (p.Tyr83Ter) rs386833914
NM_004646.4(NPHS1):c.249C>T (p.Tyr83=) rs772222126
NM_004646.4(NPHS1):c.264C>A (p.Asp88Glu)
NM_004646.4(NPHS1):c.267T>C (p.Pro89=) rs1973259005
NM_004646.4(NPHS1):c.274+11A>C
NM_004646.4(NPHS1):c.274+2T>A
NM_004646.4(NPHS1):c.274+9T>C
NM_004646.4(NPHS1):c.275-15C>T
NM_004646.4(NPHS1):c.27T>G (p.Ala9=)
NM_004646.4(NPHS1):c.2T>C (p.Met1Thr)
NM_004646.4(NPHS1):c.33C>A (p.Leu11=)
NM_004646.4(NPHS1):c.42G>T (p.Leu14=) rs2146833432
NM_004646.4(NPHS1):c.44_45dup (p.Leu16fs) rs1555764281
NM_004646.4(NPHS1):c.46C>T (p.Leu16=)
NM_004646.4(NPHS1):c.48G>A (p.Leu16=)
NM_004646.4(NPHS1):c.48G>C (p.Leu16=)
NM_004646.4(NPHS1):c.58+13C>T
NM_004646.4(NPHS1):c.58+15A>C
NM_004646.4(NPHS1):c.58+2T>C rs1973271240
NM_004646.4(NPHS1):c.58+3G>T
NM_004646.4(NPHS1):c.59-10G>A rs1337702956
NM_004646.4(NPHS1):c.59-13G>A
NM_004646.4(NPHS1):c.59-14C>T
NM_004646.4(NPHS1):c.59-16C>A
NM_004646.4(NPHS1):c.59-16C>T
NM_004646.4(NPHS1):c.59-16del
NM_004646.4(NPHS1):c.59-18A>G
NM_004646.4(NPHS1):c.60C>A (p.Gly20=)
NM_004646.4(NPHS1):c.63G>A (p.Leu21=)
NM_004646.4(NPHS1):c.66G>A (p.Ala22=) rs750193555
NM_004646.4(NPHS1):c.74C>T (p.Ala25Val)
NM_004646.4(NPHS1):c.75G>A (p.Ala25=) rs774473854
NM_004646.4(NPHS1):c.75G>C (p.Ala25=) rs774473854
NM_004646.4(NPHS1):c.7C>A (p.Leu3Met)
NM_004646.4(NPHS1):c.81T>G (p.Pro27=)
NM_004646.4(NPHS1):c.86C>T (p.Ser29Phe) rs1339541913
NM_004646.4(NPHS1):c.87C>A (p.Ser29=)
NM_004646.4(NPHS1):c.87C>G (p.Ser29=) rs544235158
NM_004646.4(NPHS1):c.90del (p.Arg32fs) rs1321939270
NM_004646.4(NPHS1):c.94C>T (p.Arg32Trp)
NM_004646.4(NPHS1):c.99C>G (p.Gly33=) rs1237846687

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