ClinVar Miner

List of variants reported as pathogenic for autosomal recessive disease by Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276 0.00010
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs) rs762334954 0.00009
NM_000163.5(GHR):c.703C>T (p.Arg235Ter) rs121909363 0.00008
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) rs78194216 0.00006
NM_001099287.2(NIPAL4):c.703G>A (p.Gly235Arg) rs375688767 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239 0.00005
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000277.3(PAH):c.472C>T (p.Arg158Trp) rs75166491 0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) rs762754992 0.00002
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter) rs772150974 0.00002
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter) rs758775001 0.00002
NM_006907.4(PYCR1):c.540+1G>A rs752297179 0.00002
NM_000019.4(ACAT1):c.1A>G (p.Met1Val) rs1305448140 0.00001
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly) rs750083132 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) rs80356691 0.00001
NM_000124.4(ERCC6):c.2143G>T (p.Gly715Ter) rs780538788 0.00001
NM_000232.5(SGCB):c.1A>G (p.Met1Val) rs398123262 0.00001
NM_000232.5(SGCB):c.621+1G>T rs1264362642 0.00001
NM_000277.3(PAH):c.169-2A>G rs1226613045 0.00001
NM_000317.3(PTS):c.200C>T (p.Thr67Met) rs370340361 0.00001
NM_000492.4(CFTR):c.1680-1G>A rs121908794 0.00001
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter) rs121908760 0.00001
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys) rs121909008 0.00001
NM_000492.4(CFTR):c.580-2A>G rs193922730 0.00001
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter) rs755160837 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_001017420.3(ESCO2):c.1131+1G>A rs80359861 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter) rs1489993984 0.00001
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034 0.00001
NM_020632.3(ATP6V0A4):c.1691+1G>A rs587776615 0.00001
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr) rs541517496
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs) rs1293496023
NM_000070.3(CAPN3):c.2051-1G>T rs886042108
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs) rs748026887
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000277.3(PAH):c.804C>A (p.Tyr268Ter) rs748337823
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000372.5(TYR):c.976C>T (p.Gln326Ter) rs540911439
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.274-1G>C rs121908792
NM_000492.4(CFTR):c.53+1G>T rs397508746
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) rs120074127
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001128228.3(TPRN):c.225_235del (p.Gly76fs) rs387906221
NM_001130987.2(DYSF):c.5757del (p.Glu1920fs) rs1573100371
NM_001242882.2(NAXD):c.54_57del (p.Ala20fs) rs773887880
NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter) rs1000091588
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter) rs80338907
NM_004004.6(GJB2):c.95G>A (p.Arg32His) rs111033190
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe) rs1436441738
NM_015665.6(AAAS):c.1264_1273del (p.Gln422fs) rs2121082201
NM_017825.3(ADPRS):c.414_418del (p.Ala139fs) rs1557733597
NM_018451.5(CENPJ):c.3309dup (p.Pro1104fs) rs1131691823
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del) rs587777378
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter) rs527236133
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_138694.4(PKHD1):c.6840G>A (p.Trp2280Ter) rs1583295819
NM_144596.4(TTC8):c.1049+2_1049+4del rs587777807
NM_145861.4(EDARADD):c.196C>T (p.Arg66Ter) rs766500689
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter) rs2037682180
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238

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