ClinVar Miner

List of variants in gene combination KIRREL2, NPHS1 studied for Finnish congenital nephrotic syndrome

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Total variants: 50
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HGVS dbSNP gnomAD frequency
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.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.87C>T (p.Ser29=) rs544235158 0.00003
NM_004646.4(NPHS1):c.105G>A (p.Trp35Ter) rs1450477596 0.00001
NM_004646.4(NPHS1):c.18G>A (p.Thr6=) rs370650840 0.00001
NM_004646.4(NPHS1):c.191G>C (p.Trp64Ser) rs386833897 0.00001
NM_004646.4(NPHS1):c.218C>T (p.Pro73Leu) rs752777463 0.00001
NM_004646.4(NPHS1):c.250C>T (p.Arg84Cys) rs1168071834 0.00001
NM_004646.4(NPHS1):c.58+1G>A rs386833954 0.00001
NM_004646.4(NPHS1):c.-489GA[10] rs139954720
NM_004646.4(NPHS1):c.-489GA[7] rs139954720
NM_004646.4(NPHS1):c.109dup (p.Leu37fs)
NM_004646.4(NPHS1):c.10G>A (p.Gly4Arg) rs1338229781
NM_004646.4(NPHS1):c.133dup (p.Glu45fs)
NM_004646.4(NPHS1):c.139del (p.Ala47fs) rs386833882
NM_004646.4(NPHS1):c.146T>G (p.Val49Gly) rs1973263497
NM_004646.4(NPHS1):c.162_176del (p.Val55_Gly59del)
NM_004646.4(NPHS1):c.163del (p.Val55fs)
NM_004646.4(NPHS1):c.173del (p.Pro58fs)
NM_004646.4(NPHS1):c.174del (p.Gly59fs) rs1057516942
NM_004646.4(NPHS1):c.181_182insTCTT (p.Ala61fs)
NM_004646.4(NPHS1):c.181_182insTT (p.Ala61fs)
NM_004646.4(NPHS1):c.187C>T (p.Gln63Ter)
NM_004646.4(NPHS1):c.233dup (p.Gly79fs)
NM_004646.4(NPHS1):c.248dup (p.Tyr83Ter) rs386833914
NM_004646.4(NPHS1):c.249C>G (p.Tyr83Ter) rs772222126
NM_004646.4(NPHS1):c.33_34delinsTACACATCTG (p.Leu12fs)
NM_004646.4(NPHS1):c.41T>C (p.Leu14Pro) rs1060499706
NM_004646.4(NPHS1):c.44_45dup (p.Leu16fs) rs1555764281
NM_004646.4(NPHS1):c.45del (p.Leu16fs) rs1555764281
NM_004646.4(NPHS1):c.49del (p.Leu16_Leu17insTer)
NM_004646.4(NPHS1):c.58+1G>T rs386833954
NM_004646.4(NPHS1):c.59-1G>T
NM_004646.4(NPHS1):c.67del (p.Gln23fs)
NM_004646.4(NPHS1):c.71T>A (p.Leu24Ter)
NM_004646.4(NPHS1):c.86C>T (p.Ser29Phe) rs1339541913
NM_004646.4(NPHS1):c.94del (p.Arg32fs)

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