ClinVar Miner

List of variants reported as pathogenic for autosomal recessive disease by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly) rs201735454 0.00011
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter) rs104894002 0.00002
NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter) rs587776942 0.00002
NM_003672.4(CDC14A):c.1015C>T (p.Arg339Ter) rs777112652 0.00001
NM_003672.4(CDC14A):c.417C>G (p.Tyr139Ter) rs771622183 0.00001
NM_012205.3(HAAO):c.483dup (p.Asp162Ter) rs527656756 0.00001
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter) rs767638289 0.00001
NM_001013838.3(CARMIL2):c.2557C>T (p.Gln853Ter) rs1567632864
NM_002039.4(GAB1):c.347G>A (p.Gly116Glu) rs1553950635
NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter) rs549556142
NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter) rs876661408
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter) rs2051507892
NM_012205.3(HAAO):c.558G>A (p.Trp186Ter) rs1135401743
NM_017697.4(ESRP1):c.775C>G (p.Leu259Val) rs1554577402
NM_018965.4(TREM2):c.40G>T (p.Glu14Ter) rs386834143
NM_020401.4(NUP107):c.303G>A (p.Met101Ile) rs730882216
NM_020964.3(EPG5):c.2575G>T (p.Glu859Ter) rs587776941
NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter) rs587776940
NM_020964.3(EPG5):c.4588C>T (p.Gln1530Ter) rs587776939

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