ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive disease by Mendelics

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00214
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) rs201650281 0.00013
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_016038.4(SBDS):c.388G>A (p.Val130Met) rs201070132 0.00009
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp) rs72653788 0.00006
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00004
NM_001048174.2(MUTYH):c.421-2A>C rs786203161 0.00004
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val) rs540008835 0.00003
NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys) rs750066836 0.00003
NM_003322.6(TULP1):c.1082G>A (p.Arg361Gln) rs1313593155 0.00003
NM_016356.5(DCDC2):c.829A>T (p.Lys277Ter) rs775868003 0.00003
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys) rs1242741686 0.00002
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_020632.3(ATP6V0A4):c.1691+2dup rs753232747 0.00002
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) rs752058510 0.00001
NM_000492.4(CFTR):c.2846A>T (p.His949Leu) rs397508444 0.00001
NM_000492.4(CFTR):c.325T>C (p.Tyr109His) rs397508522 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000553.6(WRN):c.1351-1G>A rs1170732591 0.00001
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro) rs1406298698 0.00001
NM_001692.4(ATP6V1B1):c.1386C>G (p.Tyr462Ter) rs1572924733 0.00001
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp) rs373519519 0.00001
NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly) rs922800309 0.00001
NM_004744.5(LRAT):c.163C>G (p.Arg55Gly) rs527236079 0.00001
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys) rs766478634 0.00001
NM_005548.3(KARS1):c.1493C>T (p.Ala498Val) rs1415687857 0.00001
NM_005807.6(PRG4):c.3756dup (p.Lys1253Ter) rs1406678014 0.00001
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032 0.00001
NM_014363.6(SACS):c.562G>A (p.Gly188Arg) rs780184251 0.00001
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) rs936681187 0.00001
NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln) rs758239674 0.00001
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys) rs773004408 0.00001
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr) rs1335391766 0.00001
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) rs369292828 0.00001
NM_206933.4(USH2A):c.1547G>T (p.Gly516Val) rs1415484067 0.00001
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys) rs775177930 0.00001
NM_206933.4(USH2A):c.9920G>A (p.Cys3307Tyr) rs983763783 0.00001
NM_000057.4(BLM):c.2576_2577del (p.Arg859fs) rs1567052178
NM_000057.4(BLM):c.2663-2A>G rs1567053170
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr) rs367543029
NM_000232.5(SGCB):c.753+5G>A rs936193061
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu) rs104895089
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser) rs1413989228
NM_000260.4(MYO7A):c.1046C>A (p.Ser349Tyr) rs782432573
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter) rs530520654
NM_000271.5(NPC1):c.114_122del (p.Lys38_Tyr40del) rs1599011473
NM_000271.5(NPC1):c.57+4A>G rs1057519229
NM_000277.3(PAH):c.1085C>G (p.Pro362Arg) rs1592947563
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del) rs751058068
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln) rs374396138
NM_000329.3(RPE65):c.1004A>T (p.Glu335Val) rs1571164534
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr) rs1571158755
NM_000360.4(TH):c.293_295dup (p.Arg98_Ala99insGly) rs1590170978
NM_000360.4(TH):c.815T>G (p.Leu272Arg) rs775410637
NM_000370.3(TTPA):c.172G>C (p.Ala58Pro) rs982650476
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp) rs1314376649
NM_000492.3(CFTR):c.(1341+1_1342-1)_(1716+1_1717-1)del
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del) rs397508141
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro) rs1562892293
NM_000492.4(CFTR):c.1505T>G (p.Ile502Ser) rs397508222
NM_000492.4(CFTR):c.1525G>C (p.Gly509Arg) rs1562898465
NM_000492.4(CFTR):c.1546_1548delinsT (p.Arg516fs) rs1562898489
NM_000492.4(CFTR):c.1550A>G (p.Tyr517Cys) rs1562898496
NM_000492.4(CFTR):c.1559T>A (p.Val520Asp) rs1562898510
NM_000492.4(CFTR):c.1654C>A (p.Gln552Lys) rs76554633
NM_000492.4(CFTR):c.1760T>C (p.Phe587Ser) rs1562907260
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys) rs397508533
NM_000492.4(CFTR):c.3739G>A (p.Gly1247Arg) rs397508601
NM_000492.4(CFTR):c.4242+5G>A rs1562929196
NM_000492.4(CFTR):c.4389del (p.Ile1464fs) rs1584850283
NM_000492.4(CFTR):c.4400_*34del (p.Leu1467_Ter1481delinsXaa) rs1562929636
NM_000492.4(CFTR):c.4400del (p.Leu1467fs) rs1562929633
NM_000492.4(CFTR):c.950T>A (p.Val317Glu) rs1204521684
NM_000543.5(SMPD1):c.1264-1G>C rs1057516454
NM_000554.6(CRX):c.480_481del (p.Ser161fs) rs1599991538
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg) rs1470602732
NM_001048174.2(MUTYH):c.421-2A>G rs786203161
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro) rs776988725
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001283009.2(RTEL1):c.2852-1G>C rs2145448526
NM_001614.5(ACTG1):c.434C>T (p.Ser145Phe) rs2143779274
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val) rs797044730
NM_001614.5(ACTG1):c.608C>T (p.Thr203Met) rs281875327
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs) rs1566443170
NM_002180.3(IGHMBP2):c.1632+3del rs2154008712
NM_002335.4(LRP5):c.3857G>A (p.Cys1286Tyr) rs1326459816
NM_002485.5(NBN):c.1914+2_1914+3del rs1586043528
NM_002485.5(NBN):c.702+1del rs1586088347
NM_002485.5(NBN):c.89del (p.Asn30fs) rs587781718
NM_004744.5(LRAT):c.346T>C (p.Phe116Leu) rs1578860322
NM_005529.7(HSPG2):c.1654+5G>A rs1572356343
NM_006721.4(ADK):c.1031C>T (p.Ala344Val) rs1589387419
NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro) rs727503785
NM_014780.5(CUL7):c.2862+2T>G rs2150321832
NM_015046.7(SETX):c.6017G>A (p.Cys2006Tyr) rs200154603
NM_015311.3(OBSL1):c.1534+5G>C rs775172922
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs) rs1156904586
NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter) rs368433666
NM_017825.3(ADPRS):c.485T>C (p.Leu162Pro) rs1570012058
NM_018294.6(CWF19L1):c.187+1G>T rs1330992740
NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys) rs751521888
NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter) rs1584907924
NM_020632.3(ATP6V0A4):c.2451C>A (p.Phe817Leu) rs934266733
NM_020661.4(AICDA):c.417G>T (p.Met139Ile) rs1591744217
NM_022464.5(SIL1):c.158_159del (p.Arg53fs)
NM_024989.4(PGAP1):c.1066A>T (p.Lys356Ter) rs1576164991
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter) rs1576086299
NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr) rs1580845586
NM_032856.5(WDR73):c.710dup (p.Gly238fs) rs1282630153
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln) rs777034646
NM_052989.3(IFT122):c.1493T>C (p.Leu498Pro) rs2108328020
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) rs1554217913
NM_138694.4(PKHD1):c.2524A>C (p.Thr842Pro) rs1203260419
NM_138694.4(PKHD1):c.2946del (p.Cys983fs) rs1581910835
NM_170707.4(LMNA):c.1391T>A (p.Met464Lys) rs1281896947
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) rs57629361
NM_170707.4(LMNA):c.936+2T>C rs797045011
NM_174878.3(CLRN1):c.128G>T (p.Gly43Val) rs933370216
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro) rs1571524102
NM_201253.3(CRB1):c.1843G>A (p.Gly615Ser) rs1571525145
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr) rs1450635782
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) rs62635649
NM_201253.3(CRB1):c.488G>T (p.Cys163Phe) rs1571848855
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
NM_206933.4(USH2A):c.12712T>C (p.Tyr4238His) rs1571949388
NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser) rs1487450999
NM_206933.4(USH2A):c.2810G>T (p.Gly937Val) rs1572074313
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly) rs762869685

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