ClinVar Miner

List of variants in gene NPHS1 reported as benign for not provided

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Gene type:
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Total variants: 86
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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.1930+12G>A rs528950 0.01172
NM_004646.4(NPHS1):c.1930+10C>T rs76131336 0.01025
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile) rs113825926 0.00863
NM_004646.4(NPHS1):c.1758-11C>G rs145554982 0.00802
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_004646.4(NPHS1):c.1440+19C>T rs113470432 0.00498
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.1110T>C (p.Val370=) rs116459838 0.00394
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.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_004646.4(NPHS1):c.2816-16A>G rs184898050 0.00251
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.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.597G>A (p.Glu199=) rs61731102 0.00101
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695 0.00067
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys) rs147641617 0.00059
NM_004646.4(NPHS1):c.803G>A (p.Arg268Gln) rs115308424 0.00052
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu) rs114849139 0.00044
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.528T>C (p.Ser176=) rs539716201 0.00026
NM_004646.4(NPHS1):c.1518G>C (p.Gly506=) rs201817433 0.00024
NM_004646.4(NPHS1):c.2745C>T (p.Tyr915=) rs571986062 0.00020
NM_004646.4(NPHS1):c.1183G>A (p.Gly395Ser) rs372069596 0.00015
NM_004646.4(NPHS1):c.1233C>T (p.Asn411=) rs374218631 0.00014
NM_004646.4(NPHS1):c.3702C>T (p.Phe1234=) rs141375888 0.00013
NM_004646.4(NPHS1):c.3275G>A (p.Arg1092His) rs144203682 0.00011
NM_004646.4(NPHS1):c.3321G>A (p.Glu1107=) rs115670171 0.00009
NM_004646.4(NPHS1):c.888G>A (p.Ala296=) rs531224038 0.00009
NM_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys) rs370387270 0.00008
NM_004646.4(NPHS1):c.1170+9G>A rs531263446 0.00006
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile) rs367976914 0.00004
NM_004646.4(NPHS1):c.3388-14C>T rs371907999 0.00004
NM_004646.4(NPHS1):c.1628-10del rs773134091
NM_004646.4(NPHS1):c.1763A>G (p.Glu588Gly)
NM_004646.4(NPHS1):c.1931-33_1931-31del rs58208015
NM_004646.4(NPHS1):c.2213-99= rs436842
NM_004646.4(NPHS1):c.2334+192C>T rs56117924
NM_004646.4(NPHS1):c.2335-17G>A
NM_004646.4(NPHS1):c.2399G>A (p.Arg800His)
NM_004646.4(NPHS1):c.2404C>A (p.Arg802=) rs386833911
NM_004646.4(NPHS1):c.2507-13C>T rs536518140
NM_004646.4(NPHS1):c.2507-20G>A
NM_004646.4(NPHS1):c.3110-3del rs1257680200
NM_004646.4(NPHS1):c.3312-19del
NM_004646.4(NPHS1):c.3367C>G (p.Arg1123Gly)
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.4(NPHS1):c.396G>C (p.Leu132=) rs567149548
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899

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