ClinVar Miner

List of variants reported as pathogenic for autosomal recessive disease by Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_024596.5(MCPH1):c.322-1G>C rs201721894 0.00004
NM_001083961.2(WDR62):c.1521G>A (p.Leu507=) rs778207666 0.00002
NM_000057.4(BLM):c.2650_2651del (p.Lys884fs) rs1596250472
NM_000057.4(BLM):c.2809C>T (p.Gln937Ter) rs1596252279
NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs) rs1131691783
NM_001083961.2(WDR62):c.2788C>T (p.Gln930Ter) rs1599841026
NM_001083961.2(WDR62):c.3383_3401del (p.Ser1128fs) rs775357840
NM_001083961.2(WDR62):c.3469_3470del (p.Ala1157fs) rs2145874989
NM_001083961.2(WDR62):c.3936dup (p.Val1313fs) rs587776900
NM_018136.5(ASPM):c.1366G>T (p.Glu456Ter) rs199422141
NM_018136.5(ASPM):c.1631_1635del (p.Tyr544fs) rs199422144
NM_018136.5(ASPM):c.1932del (p.Phe645fs) rs2125112411
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018136.5(ASPM):c.4250_4251del (p.Arg1416_Tyr1417insTer) rs1571602991
NM_018136.5(ASPM):c.5590_5591del (p.Leu1864fs) rs1571601267
NM_018136.5(ASPM):c.6513dup (p.Val2172fs) rs1571600045
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs) rs587783278
NM_018136.5(ASPM):c.8700_8702delinsCC (p.Lys2900fs) rs2125093294
NM_018136.5(ASPM):c.9841A>T (p.Arg3281Ter) rs199422199
NM_018249.6(CDK5RAP2):c.1376del (p.Asn459fs) rs1588472215
NM_024596.5(MCPH1):c.321dup (p.Arg108fs) rs759663956
NM_144508.5(KNL1):c.6045G>A (p.Met2015Ile) rs763915472

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