ClinVar Miner

List of variants in gene NPHS1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.3594+221G>A rs460560 0.69380
NM_004646.4(NPHS1):c.3286+36C>T rs466452 0.39360
NM_004646.4(NPHS1):c.3315G>A (p.Ser1105=) rs2071327 0.31318
NM_004646.4(NPHS1):c.3481+45C>T rs731934 0.31213
NM_004646.4(NPHS1):c.349G>A (p.Glu117Lys) rs3814995 0.25613
NM_004646.4(NPHS1):c.609-302T>C rs447783 0.16561
NM_004646.4(NPHS1):c.397+61A>G rs412175 0.16511
NM_004646.4(NPHS1):c.2289C>T (p.Val763=) rs437168 0.15697
NM_004646.4(NPHS1):c.3230A>G (p.Asn1077Ser) rs4806213 0.10689
NM_004646.4(NPHS1):c.3287-54C>T rs113650287 0.09580
NM_004646.4(NPHS1):c.1320C>T (p.Pro440=) rs392702 0.08969
NM_004646.4(NPHS1):c.1171-86C>T rs417786 0.08961
NM_004646.4(NPHS1):c.2816-223del rs11326003 0.08779
NM_004646.4(NPHS1):c.3595-9G>T rs77309273 0.05118
NM_004646.4(NPHS1):c.2213-107C>T rs7248157 0.04843
NM_004646.4(NPHS1):c.1223G>A (p.Arg408Gln) rs33950747 0.04436
NM_004646.4(NPHS1):c.294C>T (p.Ile98=) rs2285450 0.04138
NM_004646.4(NPHS1):c.2971G>C (p.Val991Leu) rs34736717 0.03743
NM_004646.4(NPHS1):c.398-66T>C rs8113675 0.03471
NM_004646.4(NPHS1):c.527-254C>G rs73928329 0.03341
NM_004646.4(NPHS1):c.1012+68A>G rs80321803 0.03178
NM_004646.4(NPHS1):c.840+26A>T rs113205596 0.02816
NM_004646.4(NPHS1):c.1627+89A>G rs112388097 0.02808
NM_004646.4(NPHS1):c.2815+290C>T rs116200890 0.02669
NM_004646.4(NPHS1):c.*146T>C rs73928316 0.02465
NM_004646.4(NPHS1):c.3595-36C>G rs73928317 0.02458
NM_004646.4(NPHS1):c.398-62G>A rs396178 0.02293
NM_004646.4(NPHS1):c.1175T>C (p.Leu392Pro) rs34320609 0.01801
NM_004646.4(NPHS1):c.2927+24G>C rs10426635 0.01442
NM_004646.4(NPHS1):c.1930+12G>A rs528950 0.01172
NM_004646.4(NPHS1):c.1930+10C>T rs76131336 0.01025
NM_004646.4(NPHS1):c.2815+95C>T rs16970691 0.00958
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile) rs113825926 0.00863
NM_004646.4(NPHS1):c.2816-187T>C rs115621473 0.00856
NM_004646.4(NPHS1):c.3594+104C>T rs79919489 0.00783
NM_004646.4(NPHS1):c.3481+22A>T rs78465446 0.00782
NM_004646.4(NPHS1):c.1012+72A>G rs117418914 0.00663
NM_004646.4(NPHS1):c.1441-310G>C rs76104752 0.00556
NM_004646.4(NPHS1):c.2223C>T (p.Thr741=) rs2073901 0.00423
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.1930+140A>G rs188966501 0.00396
NM_004646.4(NPHS1):c.1110T>C (p.Val370=) rs116459838 0.00394
NM_004646.4(NPHS1):c.3311+48G>A rs113474483 0.00391
NM_004646.4(NPHS1):c.1931-92A>G rs141521464 0.00389
NM_004646.4(NPHS1):c.2212+76C>T rs79789115 0.00389
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.1931-236T>C rs146196581 0.00387
NM_004646.4(NPHS1):c.608+124C>T rs115022560 0.00384
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00270
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.3562G>A (p.Ala1188Thr) rs116700257 0.00177
NM_004646.4(NPHS1):c.3520C>T (p.His1174Tyr) rs115489112 0.00161
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.1151T>C (p.Met384Thr) rs114112112 0.00091
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695 0.00067
NM_004646.4(NPHS1):c.1620G>C (p.Ala540=) rs375861433 0.00042
NM_004646.4(NPHS1):c.1183G>A (p.Gly395Ser) rs372069596 0.00015
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_004646.4(NPHS1):c.3455C>T (p.Thr1152Met) rs143145248 0.00009
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00007
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909 0.00006
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762 0.00004
NM_004646.4(NPHS1):c.609-10C>T rs763508503 0.00004
NM_004646.4(NPHS1):c.3481+1G>T rs142883811 0.00003
NM_004646.4(NPHS1):c.1481del (p.Ser494fs) rs386833883 0.00001
NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn) rs386833889 0.00001
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys) rs386833961 0.00001
NM_004646.4(NPHS1):c.1040G>A (p.Gly347Glu) rs386833862
NM_004646.4(NPHS1):c.1606T>C (p.Ser536Pro) rs1555762694
NM_004646.4(NPHS1):c.1931-33_1931-31del rs58208015
NM_004646.4(NPHS1):c.2020C>A (p.Pro674Thr) rs2146822238
NM_004646.4(NPHS1):c.2212+10_2212+27dup rs538463177
NM_004646.4(NPHS1):c.2213-99= rs436842
NM_004646.4(NPHS1):c.2334+192C>T rs56117924
NM_004646.4(NPHS1):c.2437G>A (p.Ala813Thr)
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.4(NPHS1):c.3024A>G (p.Arg1008=) rs1131691606
NM_004646.4(NPHS1):c.3110-190C>T
NM_004646.4(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.4(NPHS1):c.3481+4A>T rs1057524695
NM_004646.4(NPHS1):c.609-61C>T rs2267588
NM_004646.4(NPHS1):c.644T>A (p.Leu215Gln) rs755962215
NM_004646.4(NPHS1):c.673G>C (p.Glu225Gln)
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro) rs373835033
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899

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