ClinVar Miner

List of variants studied for autosomal recessive disease by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (1204):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 167
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly) rs141683210 0.00056
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu) rs147766428 0.00056
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_016004.5(IFT52):c.157G>A (p.Val53Met) rs137979762 0.00043
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser) rs66864704 0.00036
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_001395413.1(POR):c.850G>C (p.Ala284Pro) rs121912974 0.00023
NM_012414.4(RAB3GAP2):c.1960T>C (p.Ser654Pro) rs147587414 0.00023
NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp) rs369359789 0.00022
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) rs374963432 0.00018
NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter) rs111033383 0.00012
NM_018451.5(CENPJ):c.634G>T (p.Glu212Ter) rs765113367 0.00011
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His) rs564930066 0.00010
NM_001111.5(ADAR):c.656G>C (p.Gly219Ala) rs139471471 0.00010
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_000057.4(BLM):c.2237C>T (p.Ala746Val) rs769498533 0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) rs78194216 0.00006
NM_001278064.2(GRM1):c.827A>C (p.Lys276Thr) rs192397712 0.00006
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter) rs782261248 0.00006
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799 0.00005
NM_000211.5(ITGB2):c.897+1G>A rs201752283 0.00004
NM_016004.5(IFT52):c.1189C>T (p.Pro397Ser) rs764053825 0.00004
NM_018451.5(CENPJ):c.289dup (p.Thr97fs) rs759188041 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551 0.00003
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter) rs398123373 0.00003
NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp) rs587778540 0.00003
NM_001267550.2(TTN):c.77540C>T (p.Thr25847Ile) rs917984063 0.00003
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter) rs758195453 0.00003
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr) rs1292380177 0.00002
NM_001376256.1(CRYM):c.907G>A (p.Ala303Thr) rs727502945 0.00002
NM_012205.3(HAAO):c.21del (p.Arg8fs) rs1227604776 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser) rs1260264247 0.00002
NM_138691.3(TMC1):c.1312G>A (p.Ala438Thr) rs745495139 0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_000211.5(ITGB2):c.562C>T (p.Arg188Ter) rs148877937 0.00001
NM_000211.5(ITGB2):c.814G>A (p.Asp272Asn) rs749335770 0.00001
NM_000277.3(PAH):c.307G>T (p.Gly103Cys) rs752792040 0.00001
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs) rs202247791 0.00001
NM_000455.5(STK11):c.1012G>A (p.Val338Met) rs587782302 0.00001
NM_000492.4(CFTR):c.1680-1G>A rs121908794 0.00001
NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp) rs1008210645 0.00001
NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter) rs782138777 0.00001
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp) rs1270099780 0.00001
NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly) rs922800309 0.00001
NM_005807.6(PRG4):c.3756dup (p.Lys1253Ter) rs1406678014 0.00001
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met) rs1201878175 0.00001
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616 0.00001
NC_000004.12:g.(99601399_99613000)del
NC_000020.11:g.25387767_25393170del
NM_000092.5(COL4A4):c.4079C>T (p.Pro1360Leu)
NM_000271.5(NPC1):c.3662del (p.Phe1221fs) rs786200878
NM_000277.3(PAH):c.1055del (p.Gly352fs) rs62516094
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000302.4(PLOD1):c.1097+1G>A rs1389548210
NM_000334.4(SCN4A):c.2903C>A (p.Ala968Asp) rs757322725
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs) rs1392196900
NM_000426.4(LAMA2):c.872del (p.Gly291fs) rs1222620175
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.1585-11869_1585-11865del
NM_000492.4(CFTR):c.273+7334T>C
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)
NM_001040616.3(LINS1):c.1921_1923delinsAC (p.Glu641fs)
NM_001042545.2(LTBP4):c.3298C>T (p.Arg1100Ter)
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001099287.2(NIPAL4):c.859G>C (p.Asp287His) rs2113670374
NM_001127453.2(GSDME):c.868del (p.Leu290fs)
NM_001127649.3(PEX26):c.119A>G (p.Glu40Gly)
NM_001139.3(ALOX12B):c.1609G>A (p.Val537Met) rs962267153
NM_001242882.2(NAXD):c.715C>T (p.Gln239Ter) rs1331075407
NM_001267550.2(TTN):c.33694A>G (p.Lys11232Glu)
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs) rs752101551
NM_001267550.2(TTN):c.52619A>G (p.Tyr17540Cys)
NM_001267550.2(TTN):c.69331A>G (p.Ile23111Val) rs1398776954
NM_001267550.2(TTN):c.92755C>T (p.Arg30919Trp)
NM_001287.6(CLCN7):c.608G>A (p.Gly203Asp)
NM_001366722.1(GRIP1):c.1115A>G (p.Asn372Ser) rs777164145
NM_001367624.2(ZNF469):c.10199C>T (p.Pro3400Leu) rs281165933
NM_001367624.2(ZNF469):c.5789A>G (p.Gln1930Arg) rs2142308428
NM_001378183.1(PIEZO2):c.64+1G>A rs2040867555
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs) rs1218465638
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001983.4(ERCC1):c.231del (p.Thr78fs) rs2123520960
NM_002335.4(LRP5):c.787T>C (p.Cys263Arg) rs2153139472
NM_002473.6(MYH9):c.3677G>C (p.Arg1226Pro) rs200697030
NM_002485.5(NBN):c.2009G>A (p.Arg670Lys) rs1554556522
NM_002894.3(RBBP8):c.2048T>G (p.Leu683Ter) rs2045882525
NM_003047.5(SLC9A1):c.2031G>A (p.Glu677=) rs2083146343
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003801.4(GPAA1):c.499G>C (p.Ala167Pro)
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004539.4(NARS1):c.889A>C (p.Thr297Pro)
NM_004560.4(ROR2):c.2014G>T (p.Asp672Tyr) rs55651110
NM_005199.5(CHRNG):c.350+4A>G
NM_005883.3(APC2):c.2595C>A (p.His865Gln) rs2145233148
NM_005982.4(SIX1):c.84G>C (p.Glu28Asp)
NM_006267.5(RANBP2):c.2415A>C (p.Glu805Asp) rs1022223760
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter) rs924297783
NM_006892.4(DNMT3B):c.2262_2267del (p.Glu755_Leu756del)
NM_006892.4(DNMT3B):c.2467C>G (p.Arg823Gly) rs2146098171
NM_012210.4(TRIM32):c.865_866insG (p.Leu289fs)
NM_012414.4(RAB3GAP2):c.1040+1G>T
NM_012448.4(STAT5B):c.424_427del (p.Leu142fs) rs2144267361
NM_012448.4(STAT5B):c.90G>A (p.Val30=) rs2144296728
NM_014396.4(VPS41):c.1999C>T (p.Arg667Ter)
NM_014865.4(NCAPD2):c.3054_3057del (p.Leu1019fs)
NM_015046.7(SETX):c.5890C>T (p.Pro1964Ser) rs1403263153
NM_015311.3(OBSL1):c.35dup (p.Cys13fs) rs752401295
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro) rs749521854
NM_015981.4(CAMK2A):c.816G>A (p.Ser272=) rs2150279471
NM_016038.4(SBDS):c.478C>T (p.Gln160Ter)
NM_016219.5(MAN1B1):c.1972del (p.Ser658fs)
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter) rs904520404
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter) rs531916765
NM_017825.3(ADPRS):c.466C>T (p.Arg156Trp) rs866152144
NM_018136.5(ASPM):c.1199del (p.Asn400fs)
NM_018136.5(ASPM):c.7748_7749del (p.Ile2583fs)
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018249.6(CDK5RAP2):c.1654_1655delinsTT (p.Glu552Leu) rs2131564281
NM_018972.4(GDAP1):c.931G>A (p.Val311Met) rs1586807556
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter) rs2136431608
NM_020661.4(AICDA):c.45C>G (p.Phe15Leu) rs2136433359
NM_020964.3(EPG5):c.3533A>G (p.Gln1178Arg)
NM_022124.6(CDH23):c.3579+2T>C rs1385831846
NM_022124.6(CDH23):c.7712T>C (p.Leu2571Pro)
NM_022168.4(IFIH1):c.742T>C (p.Ser248Pro) rs1392840230
NM_024596.5(MCPH1):c.2214+1G>A
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter) rs1434577015
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_024685.4(BBS10):c.923T>C (p.Leu308Ser)
NM_030928.4(CDT1):c.652A>T (p.Lys218Ter)
NM_031885.5(BBS2):c.1544del (p.Gly515fs) rs2144134987
NM_031942.5(CDCA7):c.1314_1319del (p.Tyr438_Lys440delinsTer)
NM_032856.5(WDR73):c.710dup (p.Gly238fs) rs1282630153
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln) rs777034646
NM_033629.6(TREX1):c.592G>A (p.Glu198Lys) rs1416519719
NM_130837.3(OPA1):c.2885_2983+8del
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln) rs146649803
NM_144498.4(OSBPL2):c.158_159del (p.Gln53fs) rs1981200603
NM_148919.4(PSMB8):c.625G>C (p.Gly209Arg) rs1202502842
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs) rs2122235362
NM_206933.4(USH2A):c.10265G>A (p.Ser3422Asn) rs773660267
NM_206933.4(USH2A):c.11450C>T (p.Thr3817Ile)
NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter) rs2102554503
NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter) rs754889480

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