ClinVar Miner

List of variants in gene NPHP4 reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter) rs370210428 0.00004
NM_015102.5(NPHP4):c.2611+1G>A rs374141736 0.00003
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter) rs758275952 0.00003
NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter) rs1210874691 0.00002
NM_015102.5(NPHP4):c.1585_1586del (p.Gly529fs) rs751662952 0.00002
NM_015102.5(NPHP4):c.518-2A>G rs761142233 0.00002
NM_015102.5(NPHP4):c.992+2T>C rs746243637 0.00002
NM_015102.5(NPHP4):c.1075C>T (p.Gln359Ter) rs1430741326 0.00001
NM_015102.5(NPHP4):c.1504-1G>A rs1204924769 0.00001
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter) rs775612958 0.00001
NC_000001.10:g.(?_5964816)_(6017448_?)del
NM_015102.5(NPHP4):c.1042_1043dup (p.Met348fs) rs1647148516
NM_015102.5(NPHP4):c.1124_1125insCC (p.Ser376fs) rs1570504754
NM_015102.5(NPHP4):c.135_135+14del rs1557895715
NM_015102.5(NPHP4):c.135_135+8del rs2102455183
NM_015102.5(NPHP4):c.1421_1423delinsCGTGG (p.Lys474fs) rs1553178047
NM_015102.5(NPHP4):c.1503+1G>T
NM_015102.5(NPHP4):c.1788_1791del (p.Ser597fs) rs747699128
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs) rs1553200990
NM_015102.5(NPHP4):c.2007del (p.Phe670fs) rs1235304713
NM_015102.5(NPHP4):c.2327del (p.Pro776fs) rs1643882944
NM_015102.5(NPHP4):c.2611+1G>C rs374141736
NM_015102.5(NPHP4):c.2611+2_2611+3del rs2100733763
NM_015102.5(NPHP4):c.2686del (p.Arg896fs)
NM_015102.5(NPHP4):c.279+1G>A
NM_015102.5(NPHP4):c.280-1G>C rs1652115764
NM_015102.5(NPHP4):c.2817+1G>A
NM_015102.5(NPHP4):c.2908dup (p.Leu970fs) rs1168286961
NM_015102.5(NPHP4):c.3044+1G>T
NM_015102.5(NPHP4):c.3083del (p.Gly1028fs) rs1557616007
NM_015102.5(NPHP4):c.3231+1G>A rs1642345798
NM_015102.5(NPHP4):c.3409_3412del (p.Tyr1137fs) rs762371581
NM_015102.5(NPHP4):c.3458G>A (p.Trp1153Ter) rs2100466824
NM_015102.5(NPHP4):c.3473-1G>T rs564232197
NM_015102.5(NPHP4):c.3490_3491delinsA (p.Leu1164fs) rs1641316046
NM_015102.5(NPHP4):c.3644+1G>T rs756111113
NM_015102.5(NPHP4):c.3812T>C (p.Leu1271Pro)
NM_015102.5(NPHP4):c.4115T>C (p.Leu1372Pro) rs765043646
NM_015102.5(NPHP4):c.452+1G>A
NM_015102.5(NPHP4):c.452+1G>T rs1195128294
NM_015102.5(NPHP4):c.674-2A>G
NM_015102.5(NPHP4):c.834_841del (p.Ala279fs) rs781558715
NM_015102.5(NPHP4):c.992+1G>T

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