ClinVar Miner

List of variants studied for autosomal recessive disease by Sydney Genome Diagnostics, Children's Hospital Westmead

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853 0.00374
NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg) rs138354681 0.00308
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) rs116606479 0.00068
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn) rs200520898 0.00017
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842 0.00012
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter) rs200844390 0.00009
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584 0.00006
NM_015102.5(NPHP4):c.3010dup (p.Thr1004fs) rs748950922 0.00004
NM_153240.5(NPHP3):c.1928C>T (p.Pro643Leu) rs760831781 0.00004
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg) rs754579374 0.00004
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_001377.3(DYNC2H1):c.10042+2T>G rs1261505725 0.00002
NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu) rs548844573 0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) rs774290802 0.00002
NM_014425.5(INVS):c.464G>A (p.Trp155Ter) rs1007394906 0.00001
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala) rs1057518064 0.00001
NM_015102.5(NPHP4):c.1075C>T (p.Gln359Ter) rs1430741326 0.00001
NM_015102.5(NPHP4):c.1228C>T (p.Gln410Ter) rs1237376396 0.00001
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter) rs775612958 0.00001
NM_015662.3(IFT172):c.1295G>A (p.Arg432His) rs1327376049 0.00001
NM_025132.4(WDR19):c.3526C>T (p.Leu1176Phe) rs1735527919 0.00001
NM_133433.4(NIPBL):c.2741C>G (p.Thr914Ser) rs1329800608 0.00001
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759 0.00001
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro) rs889417696 0.00001
NM_000272.4:c.(1520+1_1521-1)_(1697+1_1698-1)del
NM_001023570.4(IQCB1):c.758del (p.Cys253fs) rs770441610
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001134831.2(AHI1):c.2246C>G (p.Ser749Ter) rs766069291
NM_001378454.1(ALMS1):c.7580dup (p.Tyr2527Ter) rs1672034468
NM_001378615.1(CC2D2A):c.2671G>C (p.Glu891Gln) rs863225178
NM_001378615.1(CC2D2A):c.3056G>A (p.Arg1019Gln) rs746926711
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.1840T>C (p.Cys614Arg) rs1796552273
NM_001384732.1(CPLANE1):c.6430C>G (p.Pro2144Ala) rs1779345100
NM_014425.5(INVS):c.491A>G (p.His164Arg) rs1831445914
NM_015102.5(NPHP4):c.1998_1999del (p.Tyr667fs) rs1644833186
NM_015102.5(NPHP4):c.2327del (p.Pro776fs) rs1643882944
NM_015102.5(NPHP4):c.871_889delinsC (p.Val291_Phe297delinsLeu) rs1553186265
NM_015662.3(IFT172):c.2327C>T (p.Ala776Val) rs1317766293
NM_017909.4(RMND1):c.829_830+2del rs1780336606
NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs) rs1951753208
NM_024685.4(BBS10):c.931T>G (p.Ser311Ala) rs137852837
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.4(CEP290):c.4102G>C (p.Asp1368His) rs184143186
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs) rs756302731
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs) rs1446729264
NM_138694.4(PKHD1):c.2172del (p.Gly726fs) rs1806601043
NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys) rs1793710520
NM_170784.3(MKKS):c.592_593del (p.Lys198fs) rs2064903228

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