ClinVar Miner

List of variants reported as likely pathogenic for Nephronophthisis by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_001128178.3(NPHP1):c.771+169G>T rs150520157 0.00027
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp) rs781180515 0.00005
NM_153240.5(NPHP3):c.1928C>T (p.Pro643Leu) rs760831781 0.00004
NM_015102.5(NPHP4):c.2611+1G>A rs374141736 0.00003
NM_001128178.3(NPHP1):c.729-2A>G rs773781058 0.00002
NM_014425.5(INVS):c.2068+2T>C rs777556837 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_153240.5(NPHP3):c.2570+1G>T rs1322038132 0.00002
NM_153240.5(NPHP3):c.393+1G>C rs754332448 0.00002
NM_001023570.4(IQCB1):c.393+1G>C rs1226321871 0.00001
NM_001023570.4(IQCB1):c.588-2A>G rs1250919247 0.00001
NM_001128178.3(NPHP1):c.143+1G>C rs745806504 0.00001
NM_001128178.3(NPHP1):c.325_329+7del rs1683656584 0.00001
NM_001128178.3(NPHP1):c.329+1G>A rs376974221 0.00001
NM_014425.5(INVS):c.796+5G>A rs1272619479 0.00001
NM_153240.5(NPHP3):c.2171+1G>A rs1280230808 0.00001
NM_153240.5(NPHP3):c.2311-1G>C rs1363032805 0.00001
NM_153240.5(NPHP3):c.2694-2A>T rs1395411307 0.00001
NM_153240.5(NPHP3):c.2805C>T (p.Gly935=) rs1281725083 0.00001
NC_000001.10:g.(?_5964816)_(6017448_?)del
NC_000003.11:g.(?_121491404)_(121500721_?)dup
NM_001023570.4(IQCB1):c.101-1G>A rs1372024420
NM_001023570.4(IQCB1):c.101-1G>T
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs) rs587783011
NM_001023570.4(IQCB1):c.394-1G>A
NM_001128178.3(NPHP1):c.1158+1G>A
NM_001128178.3(NPHP1):c.1352+2T>C
NM_001128178.3(NPHP1):c.141_143+40del
NM_001128178.3(NPHP1):c.144-1G>A
NM_001128178.3(NPHP1):c.1717-1G>T
NM_001128178.3(NPHP1):c.522+1G>A
NM_001128178.3(NPHP1):c.522+1G>C
NM_001128178.3(NPHP1):c.523-2A>C
NM_001128178.3(NPHP1):c.70-1G>T
NM_001128178.3(NPHP1):c.729-1G>C
NM_001128178.3(NPHP1):c.77_143+140del
NM_001128178.3(NPHP1):c.860-2A>G
NM_014425.5(INVS):c.107-1G>A
NM_014425.5(INVS):c.1234+2T>G
NM_014425.5(INVS):c.1464+1G>A rs375753623
NM_014425.5(INVS):c.1464+1G>T rs375753623
NM_014425.5(INVS):c.2069-1G>T
NM_014425.5(INVS):c.273+1G>A
NM_014425.5(INVS):c.274-2A>G
NM_014425.5(INVS):c.3104del (p.Gln1035fs) rs2118799345
NM_014425.5(INVS):c.448-2A>G
NM_014425.5(INVS):c.615+1G>A rs955421639
NM_014425.5(INVS):c.906+1G>A
NM_014425.5(INVS):c.907-1G>A
NM_015102.5(NPHP4):c.135_135+14del rs1557895715
NM_015102.5(NPHP4):c.135_135+8del rs2102455183
NM_015102.5(NPHP4):c.1503+1G>T
NM_015102.5(NPHP4):c.2611+1G>C rs374141736
NM_015102.5(NPHP4):c.2611+2_2611+3del rs2100733763
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.3044+1G>T
NM_015102.5(NPHP4):c.3231+1G>A rs1642345798
NM_015102.5(NPHP4):c.3473-1G>T rs564232197
NM_015102.5(NPHP4):c.3644+1G>T rs756111113
NM_015102.5(NPHP4):c.3812T>C (p.Leu1271Pro)
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.992+1G>T
NM_153240.5(NPHP3):c.1525-2A>G
NM_153240.5(NPHP3):c.1628+2T>A rs1277862520
NM_153240.5(NPHP3):c.2172-2A>C
NM_153240.5(NPHP3):c.2172-2A>G rs547310372
NM_153240.5(NPHP3):c.3201+2T>G
NM_153240.5(NPHP3):c.3696_3696+3del

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