ClinVar Miner

List of variants studied for autosomal recessive disease by Pars Genome Lab

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 206
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976 0.96234
NM_138694.4(PKHD1):c.2279+57A>G rs9395759 0.96175
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322 0.95778
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_000277.3(PAH):c.1155C>G (p.Leu385=) rs772897 0.84953
NM_174878.3(CLRN1):c.254-1924T>A rs6764540 0.79708
NM_004004.6(GJB2):c.*84T>C rs3751385 0.73662
NM_138694.4(PKHD1):c.8798-19A>C rs1326605 0.73187
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72068
NM_138694.4(PKHD1):c.5909-46A>G rs1266889 0.70194
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_138694.4(PKHD1):c.10156+22412C>T rs9349593 0.65024
NM_000277.3(PAH):c.696G>A (p.Gln232=) rs1126758 0.64991
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60798
NM_138694.4(PKHD1):c.8108-217C>T rs9474105 0.60763
NM_138694.4(PKHD1):c.8303-65C>A rs7765455 0.57777
NM_153717.3(EVC):c.939+63C>A rs13145958 0.55696
NM_174878.3(CLRN1):c.254-1947A>G rs6801898 0.54588
NM_153717.3(EVC):c.1098+51A>T rs4688961 0.52782
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994 0.52715
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg) rs4715227 0.52431
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) rs12210295 0.49949
NM_000231.3(SGCG):c.312T>G (p.Leu104=) rs1800351 0.47318
NM_138694.4(PKHD1):c.3629-32A>G rs2499480 0.46280
NM_138694.4(PKHD1):c.8302+12T>A rs1571084 0.45597
NM_138694.4(PKHD1):c.8302+89A>T rs1571083 0.45590
NM_138694.4(PKHD1):c.8173+144G>A rs9474104 0.45513
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_138694.4(PKHD1):c.282-41A>G rs1892274 0.43840
NM_138694.4(PKHD1):c.-84-47T>C rs9370097 0.43816
NM_000232.5(SGCB):c.244-21T>C rs225170 0.43577
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370 0.42071
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys) rs9370096 0.41404
NM_138694.4(PKHD1):c.667+57G>A rs17576809 0.41111
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669 0.41087
NM_138694.4(PKHD1):c.2407+50C>T rs10948667 0.41035
NM_138694.4(PKHD1):c.602+67A>G rs3936986 0.41008
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
NM_138694.4(PKHD1):c.7215+102T>A rs4711985 0.39765
NM_138694.4(PKHD1):c.7734-4T>C rs7452724 0.39369
NM_138694.4(PKHD1):c.7733+63C>T rs9382043 0.39367
NM_138694.4(PKHD1):c.7733+33C>T rs9382044 0.39361
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=) rs9349603 0.39323
NM_000277.3(PAH):c.441+47C>T rs1718301 0.37849
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_000277.3(PAH):c.969+43G>T rs1522306 0.36369
NM_000277.3(PAH):c.60+134A>G rs1522295 0.34771
NM_000277.3(PAH):c.60+62C>T rs1522296 0.34408
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_138694.4(PKHD1):c.8441-32G>C rs3920621 0.33143
NM_138694.4(PKHD1):c.9998+49A>G rs2397060 0.32325
NM_000277.3(PAH):c.510-54G>A rs2251905 0.32128
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_002454.3(MTRR):c.1911G>A (p.Ala637=) rs1802059 0.31218
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=) rs765525 0.30589
NM_138694.4(PKHD1):c.8643-72C>T rs9370049 0.30583
NM_138694.4(PKHD1):c.234C>T (p.Asp78=) rs9474143 0.29769
NM_138694.4(PKHD1):c.527+19T>C rs9474140 0.27509
NM_153717.3(EVC):c.1563+1771A>G rs6828631 0.27419
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_000277.3(PAH):c.353-22C>T rs2037639 0.23047
NM_002454.3(MTRR):c.284-64C>G rs2303079 0.22681
NM_002454.3(MTRR):c.781-80G>A rs162035 0.22379
NM_153717.3(EVC):c.939+114G>A rs28609792 0.21365
NM_000277.3(PAH):c.168+19T>C rs17842947 0.21168
NM_152618.3(BBS12):c.-10-41A>T rs309368 0.21057
NM_002454.3(MTRR):c.537T>C (p.Leu179=) rs161870 0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) rs162036 0.20973
NM_153717.3(EVC):c.801+240C>T rs1480169 0.20327
NM_174878.3(CLRN1):c.254-2294A>C rs11914988 0.20293
NM_153717.3(EVC):c.1465-47A>C rs4642178 0.20086
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_138694.4(PKHD1):c.8441-68T>C rs7775050 0.19022
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445 0.19015
NM_000277.3(PAH):c.509+101A>C rs10860933 0.18689
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr) rs10380 0.18188
NM_002454.3(MTRR):c.1557+54T>C rs16879356 0.17987
NM_153717.3(EVC):c.301-80G>A rs2276875 0.17578
NM_153717.3(EVC):c.1563+1897C>T rs56328334 0.16475
NM_002454.2(MTRR):c.-119T>C rs72716536 0.16355
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766 0.16051
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778 0.15902
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440 0.15807
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_000231.3(SGCG):c.297+63A>C rs4769246 0.14951
NM_138694.4(PKHD1):c.6490+62A>G rs12196767 0.14660
NM_000277.3(PAH):c.-71A>C rs2280615 0.14554
NM_138694.4(PKHD1):c.11786-30C>T rs9395699 0.14058
NM_152618.3(BBS12):c.1398C>T (p.Gly466=) rs2292493 0.13826
NM_138694.4(PKHD1):c.1234-10T>A rs4715272 0.12902
NM_174878.3(CLRN1):c.57A>T (p.Ala19=) rs3796242 0.12205
NM_000231.3(SGCG):c.386-30A>G rs66844808 0.10864
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680 0.09998
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_138694.4(PKHD1):c.8173+101A>T rs55777546 0.09629
NM_138694.4(PKHD1):c.214C>T (p.Leu72=) rs6901799 0.09338
NM_153717.3(EVC):c.618-121G>A rs75063475 0.09118
NM_153717.3(EVC):c.384+41C>T rs113870218 0.08516
NM_000231.3(SGCG):c.505+83G>T rs17374896 0.08156
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157 0.07908
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=) rs4715271 0.07716
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) rs34460237 0.06613
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_138694.4(PKHD1):c.8108-64G>A rs12523926 0.05318
NM_138694.4(PKHD1):c.527+51G>T rs62406055 0.05032
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=) rs62406036 0.05014
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032 0.05010
NM_004004.6(GJB2):c.*168A>G rs55704559 0.04011
NM_174878.3(CLRN1):c.433+1105C>T rs16846663 0.03733
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923 0.03202
NM_000277.3(PAH):c.-81C>T rs7954004 0.02852
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_138694.4(PKHD1):c.1694-32C>G rs12196276 0.02096
NM_138694.4(PKHD1):c.5236+14A>G rs12210725 0.01912
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=) rs34164469 0.01517
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_153717.3(EVC):c.385-16C>T rs113571700 0.00995
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_017739.4(POMGNT1):c.-11G>A rs80107141 0.00484
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=) rs201446579 0.00245
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779 0.00239
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) rs143136329 0.00226
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423 0.00096
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164 0.00081
NM_000023.4(SGCA):c.843C>A (p.Ala281=) rs149487996 0.00080
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950 0.00043
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660 0.00038
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459 0.00032
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226 0.00015
NM_014363.6(SACS):c.3345C>T (p.Val1115=) rs143287019 0.00015
NM_000070.3(CAPN3):c.897C>A (p.Leu299=) rs370313391 0.00013
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile) rs146199636 0.00013
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser) rs187054121 0.00011
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) rs138879998 0.00011
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=) rs373364340 0.00007
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr) rs138857720 0.00006
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter) rs776962899 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile) rs397517321 0.00006
NM_152618.3(BBS12):c.1198G>A (p.Val400Met) rs771136797 0.00005
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859 0.00004
NM_000360.4(TH):c.599G>A (p.Arg200His) rs201224335 0.00004
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197 0.00004
NM_000232.5(SGCB):c.667C>T (p.Arg223Cys) rs570232197 0.00003
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511 0.00003
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln) rs765083332 0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658 0.00003
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027 0.00002
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_000070.3(CAPN3):c.1947G>A (p.Glu649=) rs79440238 0.00001
NM_020632.3(ATP6V0A4):c.2257+1G>A rs145809731 0.00001
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=) rs771390525
NM_000260.4(MYO7A):c.4207G>T (p.Glu1403Ter) rs916332384
NM_000329.3(RPE65):c.1451-1G>A rs1317871521
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu) rs200204024
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_001378789.1(CERS3):c.540G>A (p.Trp180Ter)
NM_002454.3(MTRR):c.1875G>A (p.Val625=) rs12347
NM_004447.6(EPS8):c.1424T>G (p.Leu475Ter) rs2135785787
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg) rs201237547
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_138694.4(PKHD1):c.707+143A>C rs4711996
NM_138694.4(PKHD1):c.7486+41C>A rs982874
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys) rs759568939
NM_153717.3(EVC):c.1099-167G>C rs6810769
NM_153717.3(EVC):c.1099-208C>T rs6812234
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1563+185A>G rs12499655
NM_153717.3(EVC):c.1563+216C>A rs1194963469
NM_206933.4(USH2A):c.8992T>C (p.Ser2998Pro) rs886043586

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