ClinVar Miner

List of variants studied for autosomal recessive disease by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_022168.4(IFIH1):c.2807+1G>A rs35732034 0.00502
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile) rs72650663 0.00253
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_031471.6(FERMT3):c.332G>A (p.Arg111His) rs145419469 0.00068
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_006118.4(HAX1):c.15T>A (p.Asp5Glu) rs201078819 0.00021
NM_007259.5(VPS45):c.1701G>A (p.Ala567=) rs377365764 0.00016
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn) rs200557537 0.00014
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00008
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_032119.4(ADGRV1):c.13340G>A (p.Gly4447Asp) rs532839486 0.00005
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter) rs199422185 0.00004
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631 0.00003
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587 0.00002
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316 0.00002
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter) rs372632599 0.00002
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter) rs765476745 0.00002
NM_000317.3(PTS):c.286G>A (p.Asp96Asn) rs104894280 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_018075.5(ANO10):c.1219-1G>T rs1318561721 0.00001
NM_020247.5(COQ8A):c.588+1G>C rs1474965033 0.00001
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser) rs768606230 0.00001
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter) rs1553299079 0.00001
NM_000091.5(COL4A3):c.1788_1823del (p.Pro598_Pro609del)
NM_000277.3(PAH):c.60+2del
NM_000317.3(PTS):c.351C>A (p.Asn117Lys) rs2135410460
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1087C>T (p.Pro363Ser)
NM_000329.3(RPE65):c.1333G>C (p.Asp445His)
NM_000334.4(SCN4A):c.3733G>A (p.Gly1245Ser)
NM_000372.5(TYR):c.1493del (p.Leu498fs) rs763648121
NM_000426.4(LAMA2):c.5122G>T (p.Glu1708Ter)
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.3802C>G (p.Gln1268Glu)
NM_000492.4(CFTR):c.4354C>T (p.His1452Tyr)
NM_001048174.2(MUTYH):c.226T>G (p.Tyr76Asp) rs1060501344
NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro) rs2152742282
NM_001130987.2(DYSF):c.5547-2A>G rs1238293747
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001283009.2(RTEL1):c.106G>A (p.Val36Met)
NM_002226.5(JAG2):c.2308G>A (p.Gly770Arg)
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp) rs121918049
NM_003104.6(SORD):c.553G>A (p.Gly185Arg)
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del) rs779647632
NM_006005.3(WFS1):c.1636G>A (p.Val546Ile)
NM_006618.5(KDM5B):c.293G>C (p.Arg98Pro) rs748231291
NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)
NM_006846.4(SPINK5):c.2452G>A (p.Ala818Thr)
NM_006846.4(SPINK5):c.2728A>G (p.Asn910Asp)
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser) rs1557737087
NM_015378.4(VPS13D):c.5725+2dup
NM_016042.4(EXOSC3):c.202G>T (p.Gly68Cys) rs745785017
NM_016042.4(EXOSC3):c.251G>T (p.Gly84Val) rs2118981494
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_021954.4(GJA3):c.56C>T (p.Thr19Met) rs1114167307
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_032119.4(ADGRV1):c.10974+1G>A rs1754560628
NM_032119.4(ADGRV1):c.18082C>T (p.Leu6028Phe)
NM_032119.4(ADGRV1):c.3901G>T (p.Asp1301Tyr) rs2149466957
NM_032492.4(JAGN1):c.*9T>C rs11554811
NM_032856.5(WDR73):c.6_9del (p.Asp2fs)
NM_138694.4(PKHD1):c.10180T>G (p.Cys3394Gly)
NM_138694.4(PKHD1):c.3170G>A (p.Cys1057Tyr)
NM_138694.4(PKHD1):c.6818C>T (p.Thr2273Met)
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.387+1G>A
NM_177398.4(LMX1A):c.317T>G (p.Phe106Cys)
NM_182961.4(SYNE1):c.16849C>T (p.Arg5617Ter) rs758379604
NM_182961.4(SYNE1):c.19450C>T (p.Gln6484Ter) rs2090447154
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val) rs1553257673
NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter) rs2102451648
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521

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