ClinVar Miner

List of variants reported as pathogenic by Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169 0.00002
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter) rs1302726543 0.00001
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter) rs1060503526 0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636 0.00001
NM_016306.6(DNAJB11):c.616C>T (p.Arg206Ter) rs941713150 0.00001
NC_000016.10:g.2132490_2138215del
NM_000297.4(PKD2):c.1039del (p.Val347fs) rs1727423812
NM_000297.4(PKD2):c.1178_1227dup (p.Lys410fs) rs1727648258
NM_000297.4(PKD2):c.1549-1G>A rs1720121027
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.203dup (p.Ala69fs) rs1187336837
NM_000297.4(PKD2):c.2118+1G>C rs1720594399
NM_000297.4(PKD2):c.2119-1603_2522+740del
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) rs778235410
NM_000297.4(PKD2):c.2524del (p.Leu842fs) rs1553928730
NM_000297.4(PKD2):c.709+1G>T rs398123308
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) rs200001068
NM_000458.4(HNF1B):c.516C>G (p.Tyr172Ter) rs764561297
NM_001009944.3(PKD1):c.10441del (p.Val3481fs) rs2091884240
NM_001009944.3(PKD1):c.11338_11344dup (p.Asp3782fs) rs1555445999
NM_001009944.3(PKD1):c.11713-1G>A rs867092741
NM_001009944.3(PKD1):c.12307del (p.Ala4103fs) rs2091442608
NM_001009944.3(PKD1):c.1232_1251dup (p.His418fs) rs2092661595
NM_001009944.3(PKD1):c.1491dup (p.Gly498fs) rs2092648005
NM_001009944.3(PKD1):c.176_206del (p.Leu59fs) rs2092939869
NM_001009944.3(PKD1):c.1987del (p.Gln663fs) rs1238458888
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter) rs2092538738
NM_001009944.3(PKD1):c.3441C>G (p.Tyr1147Ter) rs762887911
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs) rs2092683596
NM_001009944.3(PKD1):c.3745del (p.Asp1249fs) rs2092501574
NM_001009944.3(PKD1):c.3746del (p.Asp1249fs) rs2092501540
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.6534C>A (p.Cys2178Ter) rs1054011070
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter) rs1567191179
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs) rs1555453872
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs) rs1555453872
NM_001009944.3(PKD1):c.7008C>G (p.Tyr2336Ter) rs2092401442
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.7642G>T (p.Glu2548Ter) rs28369051
NM_001009944.3(PKD1):c.78del (p.Arg28fs) rs2092941432
NM_001009944.3(PKD1):c.8251C>T (p.Gln2751Ter) rs2092205600
NM_001009944.3(PKD1):c.8458_8459del (p.Leu2819_Ser2820insTer) rs2092196755
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.9047del (p.Gln3016fs) rs2092138707
NM_001009944.3(PKD1):c.9398-1G>C rs1555449642
NM_001009944.3(PKD1):c.9592C>T (p.Gln3198Ter) rs1474701377
NM_001009944.3(PKD1):c.9894G>A (p.Trp3298Ter) rs1415277933
NM_138694.4(PKHD1):c.1602+1G>A rs398124476
Single allele

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