ClinVar Miner

List of variants in gene NPHP4 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) rs115488133 0.00124
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) rs201065230 0.00109
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) rs191913664 0.00096
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) rs116606479 0.00068
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu) rs201998215 0.00027
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr) rs202004152 0.00024
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549 0.00020
NM_015102.5(NPHP4):c.3518G>A (p.Arg1173His) rs137932153 0.00019
NM_015102.5(NPHP4):c.1813G>A (p.Gly605Ser) rs201282741 0.00018
NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn) rs200166175 0.00017
NM_015102.5(NPHP4):c.3131G>A (p.Arg1044His) rs375819124 0.00017
NM_015102.5(NPHP4):c.2951C>T (p.Thr984Met) rs377729557 0.00009
NM_015102.5(NPHP4):c.2833C>T (p.Arg945Cys) rs767344564 0.00008
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678 0.00004
NM_015102.5(NPHP4):c.3535G>T (p.Val1179Phe) rs757359430 0.00003
NM_015102.5(NPHP4):c.490C>T (p.His164Tyr) rs761063669 0.00003
NM_015102.5(NPHP4):c.2429C>T (p.Pro810Leu) rs577635238 0.00002
NM_015102.5(NPHP4):c.3526G>A (p.Asp1176Asn) rs893677386 0.00001
NM_015102.5(NPHP4):c.1060T>C (p.Phe354Leu)
NM_015102.5(NPHP4):c.118G>A (p.Gly40Arg)
NM_015102.5(NPHP4):c.1496G>C (p.Gly499Ala)
NM_015102.5(NPHP4):c.1499C>T (p.Pro500Leu) rs938118880
NM_015102.5(NPHP4):c.2327C>G (p.Pro776Arg) rs201527181
NM_015102.5(NPHP4):c.3164C>T (p.Pro1055Leu) rs1398568182
NM_015102.5(NPHP4):c.3853G>C (p.Gly1285Arg) rs537859714
NM_015102.5(NPHP4):c.607C>T (p.Pro203Ser)

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