ClinVar Miner

List of variants in gene NPHP4 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_015102.5(NPHP4):c.3315+32G>A rs115555125 0.00616
NM_015102.5(NPHP4):c.1442-7C>T rs146078470 0.00599
NM_015102.5(NPHP4):c.3559-19del rs201335783 0.00292
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635 0.00265
NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp) rs139022622 0.00172
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu) rs35641267 0.00163
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) rs115488133 0.00124
NM_015102.5(NPHP4):c.800A>T (p.His267Leu) rs201124357 0.00124
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg) rs112206586 0.00102
NM_015102.5(NPHP4):c.2940G>A (p.Thr980=) rs146948888 0.00087
NM_015102.5(NPHP4):c.1867A>G (p.Thr623Ala) rs35959882 0.00081
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=) rs35575973 0.00078
NM_015102.5(NPHP4):c.3851G>A (p.Arg1284His) rs61739637 0.00069
NM_015102.5(NPHP4):c.2458C>T (p.Arg820Trp) rs200182705 0.00067
NM_015102.5(NPHP4):c.4141-11C>T rs139203183 0.00066
NM_015102.5(NPHP4):c.1482G>A (p.Gln494=) rs199557439 0.00064
NM_015102.5(NPHP4):c.2259C>T (p.Asp753=) rs199628481 0.00061
NM_015102.5(NPHP4):c.1935A>G (p.Leu645=) rs200104274 0.00048
NM_015102.5(NPHP4):c.3837C>T (p.Phe1279=) rs375237454 0.00040
NM_015102.5(NPHP4):c.117C>T (p.Asp39=) rs368118106 0.00039
NM_015102.5(NPHP4):c.1478C>T (p.Pro493Leu) rs201801114 0.00039
NM_015102.5(NPHP4):c.1623G>T (p.Pro541=) rs375796182 0.00036
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=) rs374003717 0.00035
NM_015102.5(NPHP4):c.2811C>T (p.Ser937=) rs758757125 0.00034
NM_015102.5(NPHP4):c.944C>T (p.Thr315Met) rs200684272 0.00033
NM_015102.5(NPHP4):c.2115T>C (p.Pro705=) rs200848754 0.00031
NM_015102.5(NPHP4):c.909C>T (p.Val303=) rs201488441 0.00030
NM_015102.5(NPHP4):c.138C>T (p.Gly46=) rs201069164 0.00028
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=) rs199925943 0.00028
NM_015102.5(NPHP4):c.2142T>A (p.Ala714=) rs199912631 0.00026
NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn) rs200166175 0.00017
NM_015102.5(NPHP4):c.4107G>A (p.Pro1369=) rs200569946 0.00017
NM_015102.5(NPHP4):c.2781C>T (p.Ala927=) rs199875603 0.00016
NM_015102.5(NPHP4):c.3309C>T (p.His1103=) rs200320780 0.00014
NM_015102.5(NPHP4):c.3351C>T (p.Ala1117=) rs371643259 0.00014
NM_015102.5(NPHP4):c.279+6C>T rs199856317 0.00012
NM_015102.5(NPHP4):c.3012G>A (p.Thr1004=) rs185162256 0.00009
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=) rs372430727 0.00008
NM_015102.5(NPHP4):c.2807C>T (p.Thr936Met) rs201074950 0.00008
NM_015102.5(NPHP4):c.2952G>A (p.Thr984=) rs375493384 0.00008
NM_015102.5(NPHP4):c.280-6C>G rs532995236 0.00007
NM_015102.5(NPHP4):c.675C>T (p.Gly225=) rs200203766 0.00007
NM_015102.5(NPHP4):c.-8C>T rs375807896 0.00006
NM_015102.5(NPHP4):c.1500A>G (p.Pro500=) rs753250092 0.00006
NM_015102.5(NPHP4):c.1576C>T (p.Leu526=) rs759553749 0.00006
NM_015102.5(NPHP4):c.2187C>T (p.Phe729=) rs767577297 0.00006
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=) rs778306754 0.00006
NM_015102.5(NPHP4):c.1851C>T (p.Ala617=) rs201192584 0.00005
NM_015102.5(NPHP4):c.1524G>A (p.Ala508=) rs760977291 0.00004
NM_015102.5(NPHP4):c.1653C>T (p.Ala551=) rs751732786 0.00004
NM_015102.5(NPHP4):c.1764-5C>T rs370899989 0.00004
NM_015102.5(NPHP4):c.1863C>T (p.Ser621=) rs185572258 0.00004
NM_015102.5(NPHP4):c.267C>T (p.Ile89=) rs372171438 0.00004
NM_015102.5(NPHP4):c.2961C>T (p.Val987=) rs113802525 0.00004
NM_015102.5(NPHP4):c.4101C>T (p.Asp1367=) rs985774455 0.00004
NM_015102.5(NPHP4):c.674-8T>G rs772596216 0.00004
NM_015102.5(NPHP4):c.828C>T (p.Asp276=) rs765113652 0.00004
NM_015102.5(NPHP4):c.891C>T (p.Phe297=) rs547403324 0.00004
NM_015102.5(NPHP4):c.903G>A (p.Pro301=) rs757313436 0.00004
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp) rs367686843 0.00003
NM_015102.5(NPHP4):c.1815C>T (p.Gly605=) rs748315715 0.00003
NM_015102.5(NPHP4):c.2358C>T (p.Val786=) rs371647995 0.00003
NM_015102.5(NPHP4):c.2646C>T (p.Asp882=) rs774354969 0.00003
NM_015102.5(NPHP4):c.3081G>A (p.Lys1027=) rs745993624 0.00003
NM_015102.5(NPHP4):c.3561C>T (p.Gly1187=) rs1041168838 0.00003
NM_015102.5(NPHP4):c.669A>G (p.Glu223=) rs183537107 0.00003
NM_015102.5(NPHP4):c.2091C>T (p.Gly697=) rs531162424 0.00002
NM_015102.5(NPHP4):c.3348C>T (p.Ile1116=) rs751938743 0.00002
NM_015102.5(NPHP4):c.3723C>T (p.Val1241=) rs375485412 0.00002
NM_015102.5(NPHP4):c.1047C>T (p.Val349=) rs560597983 0.00001
NM_015102.5(NPHP4):c.1716G>A (p.Pro572=) rs980891508 0.00001
NM_015102.5(NPHP4):c.2283A>C (p.Gly761=) rs1644089451 0.00001
NM_015102.5(NPHP4):c.2718C>T (p.Arg906=) rs576473519 0.00001
NM_015102.5(NPHP4):c.2829C>T (p.Ser943=) rs180721913 0.00001
NM_015102.5(NPHP4):c.3234C>G (p.Ala1078=) rs1036816659 0.00001
NM_015102.5(NPHP4):c.3473-16A>G rs376664242 0.00001
NM_015102.5(NPHP4):c.3927C>T (p.Asp1309=) rs377183096 0.00001
NM_015102.5(NPHP4):c.4023C>T (p.Gly1341=) rs774866535 0.00001
NM_015102.5(NPHP4):c.579G>A (p.Pro193=) rs544402763 0.00001
NM_015102.5(NPHP4):c.1008T>C (p.Ala336=)
NM_015102.5(NPHP4):c.1120-5T>C
NM_015102.5(NPHP4):c.1188C>T (p.Pro396=)
NM_015102.5(NPHP4):c.1206T>C (p.Ser402=)
NM_015102.5(NPHP4):c.1257C>T (p.His419=) rs768393994
NM_015102.5(NPHP4):c.1441+10T>C
NM_015102.5(NPHP4):c.1479G>A (p.Pro493=) rs201499649
NM_015102.5(NPHP4):c.1821C>G (p.Pro607=) rs749297150
NM_015102.5(NPHP4):c.1955+6del
NM_015102.5(NPHP4):c.1956-3C>T
NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu) rs375416303
NM_015102.5(NPHP4):c.2241G>A (p.Leu747=)
NM_015102.5(NPHP4):c.2250C>T (p.Asp750=) rs201090359
NM_015102.5(NPHP4):c.2253C>T (p.Val751=)
NM_015102.5(NPHP4):c.2272C>T (p.Leu758=)
NM_015102.5(NPHP4):c.2442C>T (p.His814=)
NM_015102.5(NPHP4):c.2612-4G>T rs776912822
NM_015102.5(NPHP4):c.2856A>G (p.Leu952=)
NM_015102.5(NPHP4):c.2877G>C (p.Arg959=) rs753858949
NM_015102.5(NPHP4):c.3117C>T (p.Asp1039=)
NM_015102.5(NPHP4):c.3144C>T (p.Ala1048=) rs540738356
NM_015102.5(NPHP4):c.3180C>T (p.His1060=)
NM_015102.5(NPHP4):c.327G>A (p.Val109=)
NM_015102.5(NPHP4):c.3294A>C (p.Ala1098=)
NM_015102.5(NPHP4):c.3423C>G (p.Leu1141=)
NM_015102.5(NPHP4):c.3453G>A (p.Pro1151=)
NM_015102.5(NPHP4):c.3472+6T>C rs886038610
NM_015102.5(NPHP4):c.3473-9C>T
NM_015102.5(NPHP4):c.3564C>T (p.Pro1188=) rs528547815
NM_015102.5(NPHP4):c.3747C>A (p.Ser1249=)
NM_015102.5(NPHP4):c.3747C>T (p.Ser1249=)
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln) rs560944258
NM_015102.5(NPHP4):c.3789T>A (p.Ala1263=)
NM_015102.5(NPHP4):c.3817-6T>C
NM_015102.5(NPHP4):c.4098C>T (p.Ser1366=)
NM_015102.5(NPHP4):c.4251G>A (p.Glu1417=)
NM_015102.5(NPHP4):c.594G>C (p.Ala198=) rs141538649
NM_015102.5(NPHP4):c.674-3C>T rs1000557946

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