ClinVar Miner

List of variants reported as 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: 43
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HGVS dbSNP gnomAD frequency
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_018131.5(CEP55):c.256C>T (p.Arg86Ter) rs141458677 0.00019
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln) rs121918374 0.00007
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000492.4(CFTR):c.3140-26A>G rs76151804 0.00006
NM_018131.5(CEP55):c.993+3A>C rs572584581 0.00004
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000317.3(PTS):c.78G>T (p.Leu26Phe) rs1317230624 0.00001
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser) rs121918732 0.00001
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=) rs762081862 0.00001
NC_000016.9:g.78179358_78219143delins[78185355_78199419inv]
NM_000231.3(SGCG):c.579-5729_702+1720del
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_000441.2(SLC26A4):c.1262A>T (p.Gln421Leu) rs201660407
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_001378454.1(ALMS1):c.11784G>A (p.Trp3928Ter) rs1318520999
NM_001378454.1(ALMS1):c.6408_6409insCCTA (p.Ala2137fs) rs1553404233
NM_001378454.1(ALMS1):c.7087del (p.Leu2363fs) rs1553404395
NM_001378454.1(ALMS1):c.7674+1G>A rs1417025395
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) rs1555255676
NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs) rs1555251822
NM_016373.4(WWOX):c.35C>G (p.Thr12Arg) rs1567567249
NM_016938.5(EFEMP2):c.379T>C (p.Cys127Arg) rs1859949436
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_020982.4(CLDN9):c.370_372dup (p.Ile124dup) rs773682747
NM_032119.4(ADGRV1):c.4148A>G (p.Tyr1383Cys) rs1580609185
NM_153700.2(STRC):c.4796_4800del (p.Cys1599fs) rs727503442
NM_207346.3(TSEN54):c.953del (p.Pro318fs)
Single allele

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