ClinVar Miner

List of variants studied for autosomal recessive disease by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.576G>A (p.Glu192=) rs1868464 0.99992
NM_001366722.1(GRIP1):c.2464+15T>C rs7970076 0.97982
NM_001366722.1(GRIP1):c.2461C>G (p.Gln821Glu) rs13277 0.87545
NM_000601.6(HGF):c.1272-4A>G rs1800793 0.76662
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile) rs9548509 0.73365
NM_001366722.1(GRIP1):c.724+10G>A rs12316942 0.67684
NM_024649.5(BBS1):c.*7A>G rs8432 0.66464
NM_016938.5(EFEMP2):c.490+23G>C rs630394 0.59356
NM_020661.4(AICDA):c.156+16G>A rs2518144 0.55804
NM_020661.4(AICDA):c.465C>T (p.His155=) rs2028373 0.53597
NM_000782.5(CYP24A1):c.552C>T (p.Ala184=) rs2296241 0.51337
NM_001366722.1(GRIP1):c.1838+13G>T rs7397862 0.49975
NM_148919.4(PSMB8):c.407+6C>T rs9276810 0.42678
NM_001077418.3(TMEM231):c.582+17T>A rs2738801 0.27293
NM_001366722.1(GRIP1):c.503-15C>A rs11838180 0.27190
NM_024649.5(BBS1):c.724-8G>C rs10896125 0.24158
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_000277.3(PAH):c.168+19T>C rs17842947 0.21168
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_207361.6(FREM2):c.2250C>T (p.Asp750=) rs41292755 0.07615
NM_006397.3(RNASEH2A):c.33A>G (p.Thr11=) rs11554400 0.06936
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032 0.05010
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_001386140.1(MTTP):c.1769+14C>T rs41275713 0.03960
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728 0.03744
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
NM_031885.5(BBS2):c.1659+3A>G rs6499838 0.03415
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923 0.03202
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107 0.02805
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02528
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) rs113337987 0.02355
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val) rs16957538 0.02076
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221 0.01861
NM_031885.5(BBS2):c.612+12C>A rs77019529 0.01713
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160 0.01649
NM_001379286.1(ZNF423):c.3361G>A (p.Ala1121Thr) rs147898137 0.01162
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895 0.00967
NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn) rs117817123 0.00946
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468 0.00905
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln) rs34218557 0.00872
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_016038.4(SBDS):c.141C>T (p.Leu47=) rs113993989 0.00747
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_020458.4(TTC7A):c.649-10C>T rs149360779 0.00698
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913 0.00589
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430 0.00506
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634 0.00435
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00423
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067 0.00375
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694 0.00287
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_198428.3(BBS9):c.2632+9C>A rs148654647 0.00242
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233 0.00182
NM_031471.6(FERMT3):c.1317G>A (p.Gln439=) rs72920390 0.00178
NM_032193.4(RNASEH2C):c.468+13G>A rs182000627 0.00178
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=) rs61736590 0.00159
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751 0.00076
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_006397.3(RNASEH2A):c.662A>G (p.Lys221Arg) rs143534021 0.00038
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000271.5(NPC1):c.3477+19T>C rs375942184 0.00019
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575 0.00003
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643 0.00002
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001
NM_000277.3(PAH):c.941C>A (p.Pro314His) rs62642940 0.00001
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165 0.00001
NM_000271.5(NPC1):c.1947+8_1947+10dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.2131-4del rs11299077
NM_000271.5(NPC1):c.2131-5_2131-4del rs11299077
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter) rs557416644
NM_005548.3(KARS1):c.223-6del rs370077957
NM_005548.3(KARS1):c.223-7_223-6del rs370077957
NM_020964.3(EPG5):c.6622-7del rs11333207
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137

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