ClinVar Miner

List of variants studied for spermatogenic failure by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 392
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HGVS dbSNP gnomAD frequency
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_001206927.2(DNAH8):c.8339T>C (p.Ile2780Thr) rs142328376 0.00463
NM_001206927.2(DNAH8):c.4908G>T (p.Glu1636Asp) rs61757219 0.00440
NM_152467.5(KLHL10):c.647A>C (p.Gln216Pro) rs116420871 0.00367
NM_144666.3(DNHD1):c.2839G>T (p.Glu947Ter) rs180918289 0.00295
NM_144666.3(DNHD1):c.4060G>A (p.Ala1354Thr) rs200542540 0.00257
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_053054.4(CATSPER1):c.231A>T (p.Gln77His) rs146165781 0.00234
NM_015512.5(DNAH1):c.7143C>G (p.Ile2381Met) rs144580984 0.00215
NM_024867.4(SPEF2):c.398G>A (p.Ser133Asn) rs148174540 0.00207
NM_020937.4(FANCM):c.5808C>T (p.Ser1936=) rs142333130 0.00178
NM_001206927.2(DNAH8):c.11776T>C (p.Leu3926=) rs148084212 0.00168
NM_001206927.2(DNAH8):c.13823C>T (p.Thr4608Met) rs142438011 0.00168
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val) rs144215747 0.00147
NM_024867.4(SPEF2):c.1633C>T (p.Pro545Ser) rs185000070 0.00143
NM_015512.5(DNAH1):c.4941G>A (p.Ala1647=) rs369578432 0.00120
NM_153700.2(STRC):c.4917A>C (p.Leu1639=) rs2860666 0.00112
NM_001206927.2(DNAH8):c.7471A>G (p.Ile2491Val) rs148698911 0.00101
NM_001206927.2(DNAH8):c.7123A>C (p.Asn2375His) rs141532428 0.00092
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His) rs138225703 0.00086
NM_025132.4(WDR19):c.2363+7C>T rs190180293 0.00066
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
NM_001206927.2(DNAH8):c.7774C>T (p.Arg2592Trp) rs113332942 0.00064
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn) rs142864437 0.00064
NM_001206927.2(DNAH8):c.14059C>T (p.Arg4687Ter) rs146551804 0.00058
NM_020937.4(FANCM):c.5141C>T (p.Ala1714Val) rs139383231 0.00058
NM_020937.4(FANCM):c.2297A>G (p.Glu766Gly) rs139946652 0.00053
NM_001206927.2(DNAH8):c.11701G>A (p.Ala3901Thr) rs560568324 0.00050
NM_020937.4(FANCM):c.5569G>A (p.Val1857Met) rs144008013 0.00049
NM_001206927.2(DNAH8):c.4303-15T>C rs201364154 0.00048
NM_020937.4(FANCM):c.1551G>A (p.Thr517=) rs139535827 0.00047
NM_020937.4(FANCM):c.159C>T (p.Asp53=) rs147559750 0.00046
NM_020937.4(FANCM):c.2996C>T (p.Pro999Leu) rs148304968 0.00044
NM_020937.4(FANCM):c.874C>G (p.Pro292Ala) rs142747831 0.00041
NM_025132.4(WDR19):c.13+15G>A rs150633358 0.00041
NM_001015878.2(AURKC):c.744C>G (p.Tyr248Ter) rs55658999 0.00040
NM_015512.5(DNAH1):c.10080G>C (p.Gln3360His) rs116930509 0.00038
NM_020937.4(FANCM):c.269C>T (p.Pro90Leu) rs142904668 0.00032
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) rs199783864 0.00030
NM_015512.5(DNAH1):c.3836A>G (p.Lys1279Arg) rs142595873 0.00029
NM_020937.4(FANCM):c.1597C>T (p.Arg533Cys) rs146151355 0.00029
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys) rs200360968 0.00027
NM_025132.4(WDR19):c.1039C>T (p.Leu347=) rs201958863 0.00027
NM_025132.4(WDR19):c.3823C>G (p.Pro1275Ala) rs200670161 0.00027
NM_015512.5(DNAH1):c.9638A>G (p.Asn3213Ser) rs199560640 0.00026
NM_020937.4(FANCM):c.163G>A (p.Asp55Asn) rs148017562 0.00026
NM_020937.4(FANCM):c.3235A>T (p.Ser1079Cys) rs146065064 0.00026
NM_020937.4(FANCM):c.1249G>C (p.Glu417Gln) rs141729590 0.00025
NM_020937.4(FANCM):c.4106A>T (p.Asn1369Ile) rs148154311 0.00024
NM_015512.5(DNAH1):c.6411C>T (p.Asn2137=) rs372595174 0.00023
NM_015512.5(DNAH1):c.5332-14G>A rs375828810 0.00022
NM_001206927.2(DNAH8):c.725G>A (p.Arg242His) rs142863013 0.00021
NM_015512.5(DNAH1):c.4086G>T (p.Arg1362=) rs199813499 0.00021
NM_020937.4(FANCM):c.4627C>T (p.Leu1543Phe) rs139536545 0.00020
NM_020937.4(FANCM):c.504G>C (p.Met168Ile) rs376316183 0.00020
NM_020937.4(FANCM):c.5205G>A (p.Ser1735=) rs138090463 0.00020
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln) rs567310076 0.00020
NM_001206927.2(DNAH8):c.2980A>T (p.Ile994Leu) rs141818413 0.00019
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala) rs199678654 0.00019
NM_015512.5(DNAH1):c.6212T>G (p.Leu2071Arg) rs757396103 0.00018
NM_020937.4(FANCM):c.2809C>T (p.Leu937Phe) rs138274490 0.00017
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val) rs146436929 0.00017
NM_025132.4(WDR19):c.2720C>T (p.Ala907Val) rs201967816 0.00017
NM_020937.4(FANCM):c.3992C>T (p.Pro1331Leu) rs149348098 0.00015
NM_020937.4(FANCM):c.5284C>A (p.Pro1762Thr) rs376197752 0.00015
NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys) rs202171930 0.00014
NM_020937.4(FANCM):c.291C>G (p.His97Gln) rs369609574 0.00014
NM_020937.4(FANCM):c.4959G>A (p.Met1653Ile) rs143152888 0.00014
NM_020937.4(FANCM):c.5341-19G>A rs375732305 0.00014
NM_025132.4(WDR19):c.3435C>T (p.Ser1145=) rs200659514 0.00014
NM_020937.4(FANCM):c.2473A>C (p.Ser825Arg) rs547223696 0.00013
NM_020937.4(FANCM):c.4187C>T (p.Pro1396Leu) rs762637141 0.00013
NM_025132.4(WDR19):c.3483+5G>A rs201216969 0.00013
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe) rs201017015 0.00012
NM_020937.4(FANCM):c.934G>A (p.Ala312Thr) rs189856413 0.00012
NM_001206927.2(DNAH8):c.13417A>C (p.Ile4473Leu) rs200416428 0.00011
NM_015512.5(DNAH1):c.767G>A (p.Arg256Gln) rs200017350 0.00011
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) rs146609069 0.00011
NM_025132.4(WDR19):c.1796C>T (p.Ala599Val) rs193273000 0.00011
NM_025132.4(WDR19):c.1797T>G (p.Ala599=) rs373430338 0.00011
NM_025132.4(WDR19):c.3029A>G (p.Tyr1010Cys) rs548534755 0.00011
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly) rs201051877 0.00011
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala) rs202232525 0.00011
NM_015512.5(DNAH1):c.6930C>T (p.Ile2310=) rs370197256 0.00010
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val) rs192495145 0.00010
NM_025132.4(WDR19):c.2464A>G (p.Ile822Val) rs138364911 0.00010
NM_001206927.2(DNAH8):c.6434A>G (p.Gln2145Arg) rs780541458 0.00009
NM_020937.4(FANCM):c.1668T>C (p.Asp556=) rs142380037 0.00009
NM_020937.4(FANCM):c.4523C>G (p.Ala1508Gly) rs561723791 0.00009
NM_020937.4(FANCM):c.4986G>T (p.Lys1662Asn) rs151273573 0.00009
NM_020937.4(FANCM):c.547A>C (p.Ser183Arg) rs368937236 0.00009
NM_020937.4(FANCM):c.775A>G (p.Ile259Val) rs150256536 0.00009
NM_025132.4(WDR19):c.3967G>A (p.Ala1323Thr) rs563367049 0.00009
NM_025132.4(WDR19):c.99-11A>C rs756899296 0.00009
NM_001206927.2(DNAH8):c.9025C>A (p.Leu3009Met) rs199779645 0.00008
NM_015512.5(DNAH1):c.1135A>G (p.Asn379Asp) rs372166382 0.00008
NM_020937.4(FANCM):c.3735A>T (p.Ile1245=) rs574509639 0.00008
NM_020937.4(FANCM):c.4222+18dup rs760075544 0.00008
NM_020937.4(FANCM):c.4352A>G (p.His1451Arg) rs572890751 0.00008
NM_020937.4(FANCM):c.5177C>T (p.Pro1726Leu) rs750384175 0.00008
NM_025132.4(WDR19):c.1127T>C (p.Val376Ala) rs773816730 0.00008
NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser) rs772687020 0.00008
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys) rs779635441 0.00008
NM_020937.4(FANCM):c.1636G>A (p.Gly546Ser) rs768676143 0.00007
NM_020937.4(FANCM):c.1742G>A (p.Arg581His) rs748083548 0.00007
NM_020937.4(FANCM):c.1760T>C (p.Ile587Thr) rs147805461 0.00007
NM_020937.4(FANCM):c.2716A>T (p.Ile906Phe) rs773837264 0.00007
NM_020937.4(FANCM):c.3371C>T (p.Pro1124Leu) rs148605513 0.00007
NM_020937.4(FANCM):c.5951A>T (p.Tyr1984Phe) rs202101508 0.00007
NM_020937.4(FANCM):c.93A>G (p.Arg31=) rs112641528 0.00007
NM_025132.4(WDR19):c.1391G>A (p.Arg464His) rs369201153 0.00007
NM_025132.4(WDR19):c.3261+20C>T rs547317070 0.00007
NM_025132.4(WDR19):c.3358+14A>G rs372822923 0.00007
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg) rs756321262 0.00007
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter) rs727503444 0.00007
NM_001206927.2(DNAH8):c.3377G>A (p.Arg1126His) rs776311330 0.00006
NM_015512.5(DNAH1):c.10765G>A (p.Asp3589Asn) rs200850423 0.00006
NM_020937.4(FANCM):c.1397-16T>A rs752547104 0.00006
NM_020937.4(FANCM):c.179C>A (p.Ala60Glu) rs200717151 0.00006
NM_020937.4(FANCM):c.2452A>G (p.Ile818Val) rs199948045 0.00006
NM_020937.4(FANCM):c.3096T>C (p.Asp1032=) rs199507375 0.00006
NM_020937.4(FANCM):c.3499A>G (p.Ile1167Val) rs573485502 0.00006
NM_020937.4(FANCM):c.3731A>G (p.Glu1244Gly) rs746030136 0.00006
NM_020937.4(FANCM):c.4708C>T (p.Arg1570Cys) rs139376041 0.00006
NM_020937.4(FANCM):c.4934G>A (p.Arg1645His) rs377502779 0.00006
NM_020937.4(FANCM):c.6143T>C (p.Ile2048Thr) rs150447576 0.00006
NM_025132.4(WDR19):c.1118C>G (p.Ala373Gly) rs371744495 0.00006
NM_025132.4(WDR19):c.1172A>G (p.Asn391Ser) rs758716599 0.00006
NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr) rs754631759 0.00006
NM_025132.4(WDR19):c.2455C>A (p.Gln819Lys) rs779337768 0.00006
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NM_015512.5(DNAH1):c.10636C>T (p.Arg3546Ter) rs200416242 0.00005
NM_020937.4(FANCM):c.1091G>C (p.Cys364Ser) rs1257244524 0.00005
NM_020937.4(FANCM):c.1550C>T (p.Thr517Met) rs149473953 0.00005
NM_020937.4(FANCM):c.2426T>G (p.Phe809Cys) rs565347397 0.00005
NM_020937.4(FANCM):c.3509C>T (p.Thr1170Met) rs151218879 0.00005
NM_020937.4(FANCM):c.3852T>G (p.Asp1284Glu) rs778247426 0.00005
NM_025132.4(WDR19):c.1734T>A (p.Asp578Glu) rs571678102 0.00005
NM_025132.4(WDR19):c.2450T>A (p.Val817Glu) rs749621367 0.00005
NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys) rs757564170 0.00005
NM_025132.4(WDR19):c.522+13C>T rs374417243 0.00005
NM_025132.4(WDR19):c.962-11G>A rs537505873 0.00005
NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr) rs727503447 0.00005
NM_001206927.2(DNAH8):c.11345A>C (p.Asn3782Thr) rs150057448 0.00004
NM_015512.5(DNAH1):c.1969C>G (p.Pro657Ala) rs199996069 0.00004
NM_015512.5(DNAH1):c.9611G>A (p.Arg3204Gln) rs970203810 0.00004
NM_020937.4(FANCM):c.1192C>T (p.Arg398Trp) rs752364451 0.00004
NM_020937.4(FANCM):c.1373T>C (p.Ile458Thr) rs201596252 0.00004
NM_020937.4(FANCM):c.1528G>A (p.Gly510Ser) rs146291619 0.00004
NM_020937.4(FANCM):c.1752G>A (p.Arg584=) rs373696744 0.00004
NM_020937.4(FANCM):c.1960C>T (p.Arg654Trp) rs112784867 0.00004
NM_020937.4(FANCM):c.2017A>C (p.Ser673Arg) rs756249141 0.00004
NM_020937.4(FANCM):c.2158C>T (p.Pro720Ser) rs751262177 0.00004
NM_020937.4(FANCM):c.231C>T (p.Thr77=) rs377164876 0.00004
NM_020937.4(FANCM):c.3083A>T (p.His1028Leu) rs774142261 0.00004
NM_020937.4(FANCM):c.3147A>C (p.Leu1049Phe) rs147299864 0.00004
NM_020937.4(FANCM):c.3473C>T (p.Ser1158Phe) rs952413457 0.00004
NM_020937.4(FANCM):c.3827C>T (p.Ser1276Leu) rs753876341 0.00004
NM_020937.4(FANCM):c.3882T>C (p.Val1294=) rs774984454 0.00004
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr) rs771311008 0.00004
NM_020937.4(FANCM):c.4222+5G>A rs201544504 0.00004
NM_020937.4(FANCM):c.496G>A (p.Ala166Thr) rs369365858 0.00004
NM_020937.4(FANCM):c.5117A>C (p.Asn1706Thr) rs767619000 0.00004
NM_020937.4(FANCM):c.875C>T (p.Pro292Leu) rs781381334 0.00004
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys) rs201148758 0.00004
NM_025132.4(WDR19):c.1962A>G (p.Ala654=) rs770818331 0.00004
NM_025132.4(WDR19):c.2607C>T (p.Tyr869=) rs371645967 0.00004
NM_025132.4(WDR19):c.2742T>C (p.Ala914=) rs753812144 0.00004
NM_025132.4(WDR19):c.3281G>A (p.Arg1094His) rs781620821 0.00004
NM_025132.4(WDR19):c.3502G>A (p.Asp1168Asn) rs750250561 0.00004
NM_025132.4(WDR19):c.3532C>T (p.Arg1178Trp) rs754690461 0.00004
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378 0.00004
NM_173628.4(DNAH17):c.11679A>G (p.Gly3893=) rs573132649 0.00004
NM_015512.5(DNAH1):c.475C>T (p.Arg159Trp) rs561508479 0.00003
NM_020937.4(FANCM):c.1756G>C (p.Val586Leu) rs775663650 0.00003
NM_020937.4(FANCM):c.2497G>A (p.Asp833Asn) rs752560995 0.00003
NM_020937.4(FANCM):c.3544C>T (p.Leu1182Phe) rs1180319315 0.00003
NM_020937.4(FANCM):c.4220A>G (p.Glu1407Gly) rs946759727 0.00003
NM_020937.4(FANCM):c.4318-3T>G rs367696095 0.00003
NM_020937.4(FANCM):c.4433G>A (p.Cys1478Tyr) rs553521590 0.00003
NM_020937.4(FANCM):c.4578T>G (p.Val1526=) rs368982372 0.00003
NM_020937.4(FANCM):c.4872T>G (p.Cys1624Trp) rs919256712 0.00003
NM_020937.4(FANCM):c.5683T>C (p.Cys1895Arg) rs148945714 0.00003
NM_020937.4(FANCM):c.56C>T (p.Ser19Leu) rs201383385 0.00003
NM_020937.4(FANCM):c.6060G>A (p.Glu2020=) rs949619907 0.00003
NM_020937.4(FANCM):c.6084T>C (p.Tyr2028=) rs756119280 0.00003
NM_020937.4(FANCM):c.6139G>A (p.Asp2047Asn) rs192079020 0.00003
NM_025132.4(WDR19):c.1016A>G (p.Gln339Arg) rs773773910 0.00003
NM_025132.4(WDR19):c.1168C>A (p.Pro390Thr) rs752803760 0.00003
NM_025132.4(WDR19):c.1430G>A (p.Arg477His) rs371117988 0.00003
NM_025132.4(WDR19):c.2087G>A (p.Arg696His) rs747881116 0.00003
NM_025132.4(WDR19):c.2872G>A (p.Ala958Thr) rs1057523257 0.00003
NM_025132.4(WDR19):c.3716+13G>A rs759523972 0.00003
NM_025132.4(WDR19):c.3749C>T (p.Thr1250Met) rs529745222 0.00003
NM_025132.4(WDR19):c.778C>T (p.His260Tyr) rs754678482 0.00003
NM_015512.5(DNAH1):c.7864C>T (p.Arg2622Ter) rs368033879 0.00002
NM_020937.4(FANCM):c.1043A>G (p.Asn348Ser) rs369752557 0.00002
NM_020937.4(FANCM):c.1433G>A (p.Arg478Gln) rs932978530 0.00002
NM_020937.4(FANCM):c.1490C>T (p.Ser497Leu) rs1226481393 0.00002
NM_020937.4(FANCM):c.1565A>G (p.Gln522Arg) rs371569048 0.00002
NM_020937.4(FANCM):c.1973G>A (p.Arg658Gln) rs763495035 0.00002
NM_020937.4(FANCM):c.2085G>C (p.Arg695Ser) rs368303133 0.00002
NM_020937.4(FANCM):c.2444C>T (p.Ser815Leu) rs371688801 0.00002
NM_020937.4(FANCM):c.2890G>A (p.Glu964Lys) rs200017450 0.00002
NM_020937.4(FANCM):c.2968G>A (p.Val990Ile) rs772477865 0.00002
NM_020937.4(FANCM):c.3173A>G (p.Asn1058Ser) rs747787931 0.00002
NM_020937.4(FANCM):c.3436G>A (p.Asp1146Asn) rs142077813 0.00002
NM_020937.4(FANCM):c.3513T>C (p.Pro1171=) rs771150480 0.00002
NM_020937.4(FANCM):c.3935T>C (p.Leu1312Pro) rs200028975 0.00002
NM_020937.4(FANCM):c.4483A>G (p.Ile1495Val) rs765860916 0.00002
NM_020937.4(FANCM):c.5066C>T (p.Ala1689Val) rs759068569 0.00002
NM_020937.4(FANCM):c.5581A>G (p.Met1861Val) rs763226965 0.00002
NM_020937.4(FANCM):c.601G>A (p.Gly201Arg) rs139736490 0.00002
NM_020937.4(FANCM):c.6068A>G (p.Tyr2023Cys) rs750156990 0.00002
NM_020937.4(FANCM):c.88G>C (p.Glu30Gln) rs373268822 0.00002
NM_025132.4(WDR19):c.1357-8C>T rs754713889 0.00002
NM_025132.4(WDR19):c.1486G>A (p.Val496Ile) rs1482640692 0.00002
NM_025132.4(WDR19):c.1752T>C (p.Tyr584=) rs139391186 0.00002
NM_025132.4(WDR19):c.2954C>A (p.Thr985Lys) rs769807270 0.00002
NM_025132.4(WDR19):c.326G>A (p.Gly109Glu) rs766029437 0.00002
NM_025132.4(WDR19):c.343G>A (p.Gly115Arg) rs376471437 0.00002
NM_025132.4(WDR19):c.3624C>T (p.Asn1208=) rs747334676 0.00002
NM_025132.4(WDR19):c.4014G>A (p.Thr1338=) rs763555032 0.00002
NM_025132.4(WDR19):c.512C>T (p.Thr171Met) rs777646123 0.00002
NM_005431.2(XRCC2):c.659A>T (p.Asp220Val) rs765021741 0.00001
NM_015512.5(DNAH1):c.6436G>C (p.Glu2146Gln) rs946605027 0.00001
NM_015512.5(DNAH1):c.7676del (p.Val2559fs) rs765417610 0.00001
NM_015512.5(DNAH1):c.9371A>G (p.Asn3124Ser) rs202033408 0.00001
NM_020937.4(FANCM):c.1115A>G (p.Glu372Gly) rs762845761 0.00001
NM_020937.4(FANCM):c.1184-20C>A rs763504552 0.00001
NM_020937.4(FANCM):c.1271G>A (p.Arg424His) rs139726733 0.00001
NM_020937.4(FANCM):c.1301T>C (p.Ile434Thr) rs763653491 0.00001
NM_020937.4(FANCM):c.1394A>G (p.Asn465Ser) rs747572587 0.00001
NM_020937.4(FANCM):c.1411G>A (p.Glu471Lys) rs543029493 0.00001
NM_020937.4(FANCM):c.1530C>T (p.Gly510=) rs367951081 0.00001
NM_020937.4(FANCM):c.1604G>A (p.Gly535Asp) rs201076487 0.00001
NM_020937.4(FANCM):c.1846A>G (p.Arg616Gly) rs763557682 0.00001
NM_020937.4(FANCM):c.1895G>A (p.Gly632Glu) rs757274359 0.00001
NM_020937.4(FANCM):c.190G>T (p.Ala64Ser) rs1015238529 0.00001
NM_020937.4(FANCM):c.1948G>A (p.Glu650Lys) rs763357840 0.00001
NM_020937.4(FANCM):c.1994A>G (p.Tyr665Cys) rs148250143 0.00001
NM_020937.4(FANCM):c.220G>A (p.Gly74Arg) rs765227168 0.00001
NM_020937.4(FANCM):c.2236A>G (p.Thr746Ala) rs764033302 0.00001
NM_020937.4(FANCM):c.2261G>A (p.Arg754Gln) rs529256568 0.00001
NM_020937.4(FANCM):c.2266C>T (p.Arg756Cys) rs756870111 0.00001
NM_020937.4(FANCM):c.2385T>G (p.Ile795Met) rs769468991 0.00001
NM_020937.4(FANCM):c.2458A>G (p.Asn820Asp) rs765507230 0.00001
NM_020937.4(FANCM):c.2618G>T (p.Gly873Val) rs766902093 0.00001
NM_020937.4(FANCM):c.2714A>T (p.Glu905Val) rs770155583 0.00001
NM_020937.4(FANCM):c.2721T>G (p.Ala907=) rs150172333 0.00001
NM_020937.4(FANCM):c.2755G>A (p.Glu919Lys) rs184770388 0.00001
NM_020937.4(FANCM):c.2759C>T (p.Pro920Leu) rs776256629 0.00001
NM_020937.4(FANCM):c.2807C>T (p.Ser936Leu) rs1594798166 0.00001
NM_020937.4(FANCM):c.2849A>G (p.Asn950Ser) rs775175323 0.00001
NM_020937.4(FANCM):c.2999C>G (p.Pro1000Arg) rs751314954 0.00001
NM_020937.4(FANCM):c.3332T>C (p.Val1111Ala) rs376798467 0.00001
NM_020937.4(FANCM):c.3587G>A (p.Arg1196His) rs751441742 0.00001
NM_020937.4(FANCM):c.3611G>A (p.Arg1204His) rs867324948 0.00001
NM_020937.4(FANCM):c.3658A>T (p.Ile1220Phe) rs201839320 0.00001
NM_020937.4(FANCM):c.366C>G (p.Ala122=) rs770311755 0.00001
NM_020937.4(FANCM):c.3837A>G (p.Ala1279=) rs188061266 0.00001
NM_020937.4(FANCM):c.3854A>G (p.His1285Arg) rs749696321 0.00001
NM_020937.4(FANCM):c.3888C>A (p.Ile1296=) rs764040527 0.00001
NM_020937.4(FANCM):c.3898G>A (p.Glu1300Lys) rs751795256 0.00001
NM_020937.4(FANCM):c.410T>C (p.Val137Ala) rs748823532 0.00001
NM_020937.4(FANCM):c.4126G>A (p.Ala1376Thr) rs373590893 0.00001
NM_020937.4(FANCM):c.4189A>G (p.Met1397Val) rs376581960 0.00001
NM_020937.4(FANCM):c.4193A>G (p.Tyr1398Cys) rs534229547 0.00001
NM_020937.4(FANCM):c.422C>T (p.Ala141Val) rs774380823 0.00001
NM_020937.4(FANCM):c.4565A>G (p.Asp1522Gly) rs199514189 0.00001
NM_020937.4(FANCM):c.4672G>C (p.Asp1558His) rs1251556461 0.00001
NM_020937.4(FANCM):c.4687G>C (p.Ala1563Pro) rs377410891 0.00001
NM_020937.4(FANCM):c.479T>A (p.Ile160Asn) rs781618421 0.00001
NM_020937.4(FANCM):c.5048A>G (p.Lys1683Arg) rs763454366 0.00001
NM_020937.4(FANCM):c.5152G>A (p.Val1718Met) rs371629950 0.00001
NM_020937.4(FANCM):c.5204C>T (p.Ser1735Leu) rs112745068 0.00001
NM_020937.4(FANCM):c.5228C>A (p.Ser1743Tyr) rs768392812 0.00001
NM_020937.4(FANCM):c.5342A>G (p.Asp1781Gly) rs752053357 0.00001
NM_020937.4(FANCM):c.5397A>T (p.Arg1799Ser) rs759165724 0.00001
NM_020937.4(FANCM):c.5413A>G (p.Thr1805Ala) rs1195945183 0.00001
NM_020937.4(FANCM):c.5435C>T (p.Pro1812Leu) rs200095329 0.00001
NM_020937.4(FANCM):c.5496A>C (p.Glu1832Asp) rs374303319 0.00001
NM_020937.4(FANCM):c.5533G>A (p.Val1845Ile) rs775021812 0.00001
NM_020937.4(FANCM):c.809G>A (p.Arg270His) rs759079934 0.00001
NM_020937.4(FANCM):c.812C>G (p.Ser271Cys) rs767396394 0.00001
NM_020937.4(FANCM):c.868A>G (p.Ile290Val) rs780426259 0.00001
NM_025132.4(WDR19):c.1093A>G (p.Thr365Ala) rs745627337 0.00001
NM_025132.4(WDR19):c.1248T>C (p.Asn416=) rs772867899 0.00001
NM_025132.4(WDR19):c.1350A>G (p.Leu450=) rs770470368 0.00001
NM_025132.4(WDR19):c.1535G>A (p.Arg512Gln) rs537283735 0.00001
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519 0.00001
NM_025132.4(WDR19):c.1841A>G (p.Tyr614Cys) rs780273002 0.00001
NM_025132.4(WDR19):c.1956G>C (p.Met652Ile) rs746795141 0.00001
NM_025132.4(WDR19):c.2066T>C (p.Met689Thr) rs780879248 0.00001
NM_025132.4(WDR19):c.2093A>C (p.Tyr698Ser) rs370948119 0.00001
NM_025132.4(WDR19):c.2189C>T (p.Thr730Ile) rs1157984983 0.00001
NM_025132.4(WDR19):c.2363+1G>A rs886041912 0.00001
NM_025132.4(WDR19):c.2618C>T (p.Ala873Val) rs746141233 0.00001
NM_025132.4(WDR19):c.2646-5T>C rs771971475 0.00001
NM_025132.4(WDR19):c.2710G>A (p.Ala904Thr) rs1407602801 0.00001
NM_025132.4(WDR19):c.2779G>A (p.Val927Ile) rs757105603 0.00001
NM_025132.4(WDR19):c.2876+10T>C rs773692164 0.00001
NM_025132.4(WDR19):c.2877-12A>G rs754511582 0.00001
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val) rs778689889 0.00001
NM_025132.4(WDR19):c.3114+3T>C rs1275093466 0.00001
NM_025132.4(WDR19):c.3146C>T (p.Ser1049Leu) rs763748984 0.00001
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln) rs764512369 0.00001
NM_025132.4(WDR19):c.3579C>G (p.Ile1193Met) rs368286694 0.00001
NM_025132.4(WDR19):c.3646A>G (p.Met1216Val) rs571331592 0.00001
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser) rs1035768119 0.00001
NM_025132.4(WDR19):c.389G>A (p.Arg130Gln) rs747065633 0.00001
NM_025132.4(WDR19):c.42C>T (p.Gly14=) rs531575276 0.00001
NM_025132.4(WDR19):c.6+3A>G rs1415721879 0.00001
NM_025132.4(WDR19):c.664C>G (p.Pro222Ala) rs757241775 0.00001
NM_025132.4(WDR19):c.8G>A (p.Arg3His) rs922584346 0.00001
NM_025132.4(WDR19):c.977C>G (p.Ser326Cys) rs1729012449 0.00001
NM_001206927.2(DNAH8):c.8747+4C>T rs201261721
NM_015512.5(DNAH1):c.1274G>A (p.Arg425His) rs200951874
NM_015512.5(DNAH1):c.2722A>G (p.Asn908Asp) rs1416177113
NM_015512.5(DNAH1):c.3253C>T (p.Arg1085Trp) rs199955529
NM_015512.5(DNAH1):c.4085_4086delinsTT (p.Arg1362Leu) rs1559525094
NM_015512.5(DNAH1):c.9505C>G (p.Arg3169Gly) rs185305129
NM_020937.4(FANCM):c.1223A>G (p.Asp408Gly) rs1887060432
NM_020937.4(FANCM):c.1314TAAAAA[1] (p.Asn440_Lys441del) rs771036341
NM_020937.4(FANCM):c.1397-14A>T rs757351765
NM_020937.4(FANCM):c.1450T>G (p.Ser484Ala) rs1887398867
NM_020937.4(FANCM):c.164A>T (p.Asp55Val) rs1255434449
NM_020937.4(FANCM):c.1658_1660del (p.Gly553del) rs866897480
NM_020937.4(FANCM):c.1705C>T (p.Arg569Cys) rs1388696715
NM_020937.4(FANCM):c.1738A>C (p.Lys580Gln) rs1887827994
NM_020937.4(FANCM):c.2267G>T (p.Arg756Leu) rs142763060
NM_020937.4(FANCM):c.2328C>G (p.Ser776Arg) rs1181869875
NM_020937.4(FANCM):c.2377A>T (p.Thr793Ser) rs201232194
NM_020937.4(FANCM):c.2530C>T (p.His844Tyr) rs2139242067
NM_020937.4(FANCM):c.307C>G (p.Leu103Val) rs768136056
NM_020937.4(FANCM):c.3187A>G (p.Lys1063Glu) rs1171533572
NM_020937.4(FANCM):c.3525G>C (p.Gln1175His) rs761300333
NM_020937.4(FANCM):c.3525G>T (p.Gln1175His) rs761300333
NM_020937.4(FANCM):c.3628C>G (p.Gln1210Glu) rs372276411
NM_020937.4(FANCM):c.3683T>C (p.Phe1228Ser) rs1566765698
NM_020937.4(FANCM):c.3882TAT[1] (p.Ile1296del) rs1312125043
NM_020937.4(FANCM):c.388C>T (p.Arg130Cys) rs758891745
NM_020937.4(FANCM):c.3968C>T (p.Pro1323Leu) rs1369746830
NM_020937.4(FANCM):c.398C>T (p.Pro133Leu) rs139382920
NM_020937.4(FANCM):c.4061G>A (p.Arg1354Lys) rs1302733474
NM_020937.4(FANCM):c.4378A>C (p.Ile1460Leu) rs78211950
NM_020937.4(FANCM):c.4454A>G (p.Lys1485Arg) rs2139278064
NM_020937.4(FANCM):c.4501C>A (p.Gln1501Lys) rs755947203
NM_020937.4(FANCM):c.4515+14del rs747887646
NM_020937.4(FANCM):c.4641T>A (p.Asn1547Lys) rs932577451
NM_020937.4(FANCM):c.4686A>G (p.Arg1562=) rs1889498706
NM_020937.4(FANCM):c.4691T>C (p.Ile1564Thr) rs1889499436
NM_020937.4(FANCM):c.4780-4G>C rs1486453187
NM_020937.4(FANCM):c.480C>T (p.Ile160=) rs753171718
NM_020937.4(FANCM):c.5045A>C (p.Asp1682Ala) rs2139296568
NM_020937.4(FANCM):c.5068G>C (p.Val1690Leu) rs752352756
NM_020937.4(FANCM):c.5107C>G (p.His1703Asp) rs367653310
NM_020937.4(FANCM):c.5281C>G (p.Pro1761Ala) rs540327722
NM_020937.4(FANCM):c.5285C>G (p.Pro1762Arg) rs747356020
NM_020937.4(FANCM):c.5293A>G (p.Thr1765Ala) rs1386457912
NM_020937.4(FANCM):c.5348G>A (p.Ser1783Asn) rs997324391
NM_020937.4(FANCM):c.5387C>T (p.Ser1796Phe) rs1275681669
NM_020937.4(FANCM):c.5890GTG[1] (p.Val1965del) rs769106934
NM_020937.4(FANCM):c.6010T>A (p.Ser2004Thr) rs760258217
NM_020937.4(FANCM):c.6058GAG[1] (p.Glu2021del) rs770012987
NM_020937.4(FANCM):c.682-7del rs759364320
NM_020937.4(FANCM):c.71G>T (p.Gly24Val) rs1885468827
NM_020937.4(FANCM):c.81C>T (p.Ser27=) rs1388168603
NM_020937.4(FANCM):c.83G>T (p.Gly28Val) rs1885470299
NM_020937.4(FANCM):c.876G>A (p.Pro292=) rs150757891
NM_020937.4(FANCM):c.937C>T (p.Arg313Cys) rs372710600
NM_020937.4(FANCM):c.972G>C (p.Arg324Ser) rs1886810472
NM_025132.4(WDR19):c.1234G>A (p.Val412Ile) rs1729054259
NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe) rs1560503998
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu) rs190192706
NM_025132.4(WDR19):c.1791T>C (p.Ile597=) rs2109358310
NM_025132.4(WDR19):c.2059C>T (p.His687Tyr) rs1577943727
NM_025132.4(WDR19):c.2364-4del rs750106753
NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly) rs886059400
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter) rs775181779
NM_025132.4(WDR19):c.2646-16G>T rs750485530
NM_025132.4(WDR19):c.2876+10T>A rs773692164
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter) rs1401145684
NM_025132.4(WDR19):c.3439A>G (p.Met1147Val) rs886059401
NM_025132.4(WDR19):c.3659C>T (p.Pro1220Leu) rs1735748675
NM_025132.4(WDR19):c.3951T>C (p.Cys1317=) rs564992065
NM_025132.4(WDR19):c.513G>T (p.Thr171=) rs754543019
NM_025132.4(WDR19):c.6+6_6+8del rs748952637
NM_025132.4(WDR19):c.641dup (p.Leu214fs) rs587777348
NM_025132.4(WDR19):c.814C>T (p.Arg272Cys) rs199812132
NM_025132.4(WDR19):c.961+2T>C rs1728876351

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