ClinVar Miner

List of variants studied for autosomal recessive disease by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu) rs104893968 0.00130
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg) rs121908449 0.00019
NM_001083961.2(WDR62):c.824C>T (p.Ser275Leu) rs202014178 0.00014
NM_001367624.2(ZNF469):c.10354G>A (p.Gly3452Ser) rs548646578 0.00012
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214 0.00011
NM_012208.4(HARS2):c.448C>T (p.Arg150Cys) rs140540222 0.00009
NM_003052.5(SLC34A1):c.937-2A>C rs754825865 0.00008
NM_012208.4(HARS2):c.172A>G (p.Lys58Glu) rs201392711 0.00007
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875 0.00003
NM_033100.4(CDHR1):c.524dup (p.Asn176fs) rs781781440 0.00002
NM_001040616.3(LINS1):c.1432G>T (p.Glu478Ter) rs1163046936 0.00001
NM_003383.5(VLDLR):c.1666C>T (p.Arg556Ter) rs141396971 0.00001
NM_004560.4(ROR2):c.2239C>T (p.Arg747Ter) rs374646337 0.00001
NM_012208.4(HARS2):c.259C>T (p.Arg87Cys) rs754069818 0.00001
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) rs745597204 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) rs121908581 0.00001
NM_170784.3(MKKS):c.837del (p.Gly280fs) rs776004321 0.00001
NM_170784.3(MKKS):c.890T>C (p.Ile297Thr) rs147704542 0.00001
NM_194292.3(SASS6):c.134T>A (p.Val45Asp) rs746525578 0.00001
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs) rs1598146589
NM_000180.4(GUCY2D):c.2135A>T (p.Glu712Val) rs2151802780
NM_000180.4(GUCY2D):c.2234del (p.Pro745fs) rs1598149659
NM_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)del
NM_000883.4(IMPDH1):c.978G>C (p.Gln326His) rs1584727989
NM_001048166.1(STIL):c.1078C>T (p.Gln360Ter) rs2149046665
NM_001048166.1(STIL):c.443C>T (p.Ser148Leu) rs2149198646
NM_001083961.2(WDR62):c.1138G>A (p.Asp380Asn) rs755050401
NM_001128178.3(NPHP1):c.865C>T (p.Gln289Ter) rs2104548702
NM_001194998.2(CEP152):c.467dup (p.Gln157fs) rs1208144689
NM_003896.4(ST3GAL5):c.1060G>A (p.Asp354Asn) rs749966729
NM_004560.4(ROR2):c.1184-1G>T rs2118645585
NM_005199.5(CHRNG):c.613G>T (p.Glu205Ter) rs2106221597
NM_005199.5(CHRNG):c.814del (p.Gln272fs) rs2106221927
NM_005536.4(IMPA1):c.817C>T (p.Arg273Ter) rs1308325707
NM_005861.4(STUB1):c.612+4_612+46del rs2151505435
NM_012208.4(HARS2):c.137T>A (p.Leu46Gln) rs1562047621
NM_012208.4(HARS2):c.980G>A (p.Arg327Gln) rs778499309
NM_014336.4:c.(?_-1)_(276+1_277-1)del
NM_014336.5(AIPL1):c.465G>T (p.Gln155His) rs758001091
NM_014336.5(AIPL1):c.730GAG[1] (p.Glu245del) rs1200311161
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro) rs1284009768
NM_014363.6(SACS):c.7576_7579del (p.Glu2526fs) rs2137599071
NM_015629.4(PRPF31):c.1336T>C (p.Ser446Pro) rs1600361737
NM_016219.5(MAN1B1):c.219+1G>A rs2130983856
NM_017825.3(ADPRS):c.544C>T (p.His182Tyr) rs2124055158
NM_017825.3(ADPRS):c.564C>A (p.Tyr188Ter) rs2124055267
NM_018136.5(ASPM):c.4995T>A (p.Tyr1665Ter) rs2125096196
NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_020964.3(EPG5):c.1871T>C (p.Leu624Pro) rs2145906621
NM_020964.3(EPG5):c.4931_4936del (p.Val1644_His1645del) rs2145491212
NM_024649.5(BBS1):c.1110+3G>C rs762276925
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_025074.7(FRAS1):c.3569G>T (p.Gly1190Val) rs772679809
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter) rs1592726020
NM_033028.5(BBS4):c.1106+2T>A rs886041464
NM_144672.4(OTOA):c.1792C>G (p.Leu598Val) rs765408935
NM_153240.5(NPHP3):c.361A>C (p.Thr121Pro) rs747810325
NM_201253.3(CRB1):c.4154A>G (p.Glu1385Gly) rs1571645627
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup

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