ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive disease by Service de Génétique Moléculaire, Hôpital Robert Debré

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_182961.4(SYNE1):c.226-2dup rs774388631 0.00013
NM_018136.5(ASPM):c.9238A>T (p.Lys3080Ter) rs199422186 0.00003
NM_018451.5(CENPJ):c.3893G>A (p.Arg1298Gln) rs1477524771 0.00001
NM_000057.4(BLM):c.2495_2496del (p.Thr832fs)
NM_000123.3:c.89-?_528+?del
NM_001083961.2(WDR62):c.1963dup (p.Tyr655fs)
NM_001083961.2(WDR62):c.2486C>T (p.Thr829Ile)
NM_001160372.4(TRAPPC9):c.1675dup (p.Ser559fs)
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
NM_001194998.2(CEP152):c.833-1G>C
NM_001353108.3(CEP63):c.790-2A>G
NM_014321.4(ORC6):c.360-1G>T
NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)
NM_018136.5(ASPM):c.1498del (p.Arg500fs)
NM_018136.5(ASPM):c.1619dup (p.Asp540fs)
NM_018136.5(ASPM):c.250_252delinsCG (p.Ala84fs)
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.804del (p.Val269fs)
NM_018249.6(CDK5RAP2):c.3723-2A>C
NM_018249.6(CDK5RAP2):c.968del (p.Gly322_Leu323insTer)
NM_018451.5(CENPJ):c.1426C>T (p.Gln476Ter)
NM_025009.5(CEP135):c.3211A>T (p.Lys1071Ter)
NM_025009.5(CEP135):c.3215+2T>C

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