ClinVar Miner

List of variants reported as pathogenic 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: 20
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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_003835.4(RGS9):c.895T>C (p.Trp299Arg) rs121908449 0.00019
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214 0.00011
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_033100.4(CDHR1):c.524dup (p.Asn176fs) rs781781440 0.00002
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_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)del
NM_004560.4(ROR2):c.1184-1G>T rs2118645585
NM_005199.5(CHRNG):c.814del (p.Gln272fs) rs2106221927
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro) rs1284009768
NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604

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