ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive disease by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg) rs201428088 0.00029
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137 0.00003
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg) rs748436953 0.00003
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln) rs767584322 0.00003
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572 0.00002
NM_001042472.3(ABHD12):c.874C>T (p.Arg292Ter) rs776800006 0.00001
NM_001165967.2(HES7):c.86A>G (p.Asn29Ser) rs1332109041 0.00001
NM_001267550.2(TTN):c.56648-1G>A rs769912484 0.00001
NM_006907.4(PYCR1):c.557A>G (p.Asp186Gly) rs1180294322 0.00001
NC_000001.11:g.113112478GA[1] rs1570764426
NM_000359.3(TGM1):c.953C>G (p.Pro318Arg) rs2139024935
NM_000372.5(TYR):c.[1205G>A;575C>A]
NM_000400.4(ERCC2):c.2092C>T (p.Gln698Ter) rs1555775416
NM_001040616.3(LINS1):c.557_558del (p.Lys186fs) rs747412555
NM_001040616.3(LINS1):c.597del (p.Glu200fs) rs1198074890
NM_001042472.3(ABHD12):c.1124_1129del (p.Ile375_Tyr376del) rs1555810299
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs) rs1553416039
NM_001267550.2(TTN):c.56347+1G>A rs1576251664
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs) rs766020802
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs) rs1555264243
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003896.4(ST3GAL5):c.740G>A (p.Gly247Asp) rs1573589807
NM_004830.4(MED23):c.2368_2371del (p.Leu790fs) rs760262127
NM_015294.6(TRIM37):c.1153_1154insGACTTACTCGC (p.Ala385fs) rs1599230814
NM_016239.4(MYO15A):c.7050C>A (p.Tyr2350Ter) rs1330406146
NM_018075.5(ANO10):c.1537T>C (p.Cys513Arg) rs1575415900
NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs) rs751637699
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
NM_052989.3(IFT122):c.172T>C (p.Cys58Arg) rs2074912574
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter) rs1554227215
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_138694.4(PKHD1):c.5895_5896insAC (p.Leu1966fs) rs1554162725
NM_203486.3(DLL3):c.534C>A (p.Cys178Ter) rs1447189148

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