ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive disease by Genomics England Pilot Project, Genomics England

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NC_000017.11:g.8002596T>C rs774980016 0.00004
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928 0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_006618.5(KDM5B):c.2251C>T (p.Arg751Ter) rs1287727763 0.00001
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) rs1290241933 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_182961.4(SYNE1):c.12528+1G>A rs1012514808 0.00001
NM_182961.4(SYNE1):c.26098C>T (p.Arg8700Ter) rs1193193335 0.00001
NM_000180.4(GUCY2D):c.2872A>C (p.Ser958Arg) rs2151803661
NM_000180.4(GUCY2D):c.3043+5G>A rs751822337
NM_000260.4(MYO7A):c.3886del (p.Arg1296fs) rs2135563245
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser) rs1201586094
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_001042472.3(ABHD12):c.620-2A>G rs1555811525
NM_001111.5(ADAR):c.2763-2A>G rs2101579172
NM_001111.5(ADAR):c.3254_3255del (p.Thr1085fs) rs2101563488
NM_001111.5(ADAR):c.758G>A (p.Trp253Ter) rs2101642015
NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu) rs1233961202
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_004373.4(COX6A1):c.247-7_247-3del rs587777783
NM_004525.3(LRP2):c.7840A>T (p.Arg2614Ter) rs2105329431
NM_004525.3(LRP2):c.8095C>T (p.Arg2699Ter) rs1236195196
NM_004700.4(KCNQ4):c.857A>C (p.Tyr286Ser) rs876657841
NM_005861.4(STUB1):c.779A>C (p.His260Pro) rs2151506687
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_014363.6(SACS):c.12011_12019del (p.Leu4004_Leu4006del) rs2137561854
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter) rs747501465
NM_015046.7(SETX):c.6106G>C (p.Gly2036Arg) rs863224919
NM_018136.5(ASPM):c.8365del (p.Ser2789fs) rs1353421249
NM_018136.5(ASPM):c.8794del (p.Ile2932fs) rs1160186494
NM_022124.6(CDH23):c.1986+3A>T rs2132682822
NM_138694.4(PKHD1):c.7202_7203dup (p.Gly2402fs) rs2127551949
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) rs1553889992

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