ClinVar Miner

List of variants studied for Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 250
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HGVS dbSNP gnomAD frequency
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_025132.4(WDR19):c.2363+7C>T rs190180293 0.00066
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
NM_025132.4(WDR19):c.490G>A (p.Val164Ile) rs199514431 0.00051
NM_025132.4(WDR19):c.13+15G>A rs150633358 0.00041
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) rs199783864 0.00030
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_025132.4(WDR19):c.3308G>A (p.Arg1103Gln) rs567310076 0.00020
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala) rs199678654 0.00019
NM_025132.4(WDR19):c.2720C>T (p.Ala907Val) rs201967816 0.00017
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_025132.4(WDR19):c.3435C>T (p.Ser1145=) rs200659514 0.00014
NM_025132.4(WDR19):c.2329A>G (p.Ile777Val) rs373737104 0.00013
NM_025132.4(WDR19):c.3483+5G>A rs201216969 0.00013
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_025132.4(WDR19):c.1064A>T (p.Asp355Val) rs192495145 0.00010
NM_025132.4(WDR19):c.2464A>G (p.Ile822Val) rs138364911 0.00010
NM_025132.4(WDR19):c.1250-1G>A rs1327583103 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_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_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_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_025132.4(WDR19):c.785G>A (p.Gly262Glu) rs778096567 0.00006
NM_025132.4(WDR19):c.842T>C (p.Ile281Thr) rs369657594 0.00006
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) rs377160857 0.00006
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.592G>A (p.Ala198Thr) rs575149055 0.00005
NM_025132.4(WDR19):c.962-11G>A rs537505873 0.00005
NM_025132.4(WDR19):c.1122_1123insT (p.Pro375fs) rs1353172956 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.2362G>A (p.Ala788Thr) rs768082694 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.3474A>G (p.Ile1158Met) rs760312911 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.427A>T (p.Thr143Ser) rs1300821144 0.00004
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) rs751290509 0.00004
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635 0.00004
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378 0.00004
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.2320A>G (p.Ile774Val) rs762043395 0.00003
NM_025132.4(WDR19):c.2632C>T (p.Arg878Cys) rs770091572 0.00003
NM_025132.4(WDR19):c.2872G>A (p.Ala958Thr) rs1057523257 0.00003
NM_025132.4(WDR19):c.2972A>G (p.Asn991Ser) rs763190830 0.00003
NM_025132.4(WDR19):c.3434C>T (p.Ser1145Phe) rs199625785 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_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.1904A>G (p.His635Arg) rs763696990 0.00002
NM_025132.4(WDR19):c.200A>G (p.Asp67Gly) rs778896318 0.00002
NM_025132.4(WDR19):c.2785C>T (p.Arg929Cys) rs1470166429 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_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.14T>C (p.Phe5Ser) rs1237494778 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.164+12A>G rs776617179 0.00001
NM_025132.4(WDR19):c.1716A>G (p.Val572=) rs1730484886 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.1982+2T>C rs780847651 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.2095C>T (p.Arg699Trp) rs886042728 0.00001
NM_025132.4(WDR19):c.2189C>T (p.Thr730Ile) rs1157984983 0.00001
NM_025132.4(WDR19):c.2253G>T (p.Glu751Asp) rs1170632040 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.2948C>T (p.Ala983Val) rs1293022423 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.3188G>A (p.Gly1063Asp) rs760222006 0.00001
NM_025132.4(WDR19):c.3367C>T (p.Arg1123Trp) rs369310189 0.00001
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln) rs764512369 0.00001
NM_025132.4(WDR19):c.3379G>A (p.Asp1127Asn) rs767727756 0.00001
NM_025132.4(WDR19):c.3565C>T (p.His1189Tyr) rs778261943 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.404T>C (p.Leu135Pro) rs1361187656 0.00001
NM_025132.4(WDR19):c.410A>G (p.Lys137Arg) rs763605734 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_025132.4(WDR19):c.1134+1G>A
NM_025132.4(WDR19):c.1135-2A>G
NM_025132.4(WDR19):c.1148_1149del (p.Thr383fs)
NM_025132.4(WDR19):c.1174T>G (p.Phe392Val)
NM_025132.4(WDR19):c.1217A>G (p.Asn406Ser)
NM_025132.4(WDR19):c.1234G>A (p.Val412Ile) rs1729054259
NM_025132.4(WDR19):c.1314C>G (p.Asp438Glu)
NM_025132.4(WDR19):c.1366G>A (p.Glu456Lys) rs539621646
NM_025132.4(WDR19):c.1379C>T (p.Ala460Val)
NM_025132.4(WDR19):c.137A>G (p.Gln46Arg)
NM_025132.4(WDR19):c.1388A>G (p.Glu463Gly)
NM_025132.4(WDR19):c.1400G>A (p.Arg467Gln)
NM_025132.4(WDR19):c.1417G>A (p.Asp473Asn)
NM_025132.4(WDR19):c.142A>G (p.Arg48Gly)
NM_025132.4(WDR19):c.143G>T (p.Arg48Ile)
NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe) rs1560503998
NM_025132.4(WDR19):c.1472G>A (p.Gly491Asp)
NM_025132.4(WDR19):c.1479T>C (p.Asp493=) rs1207013785
NM_025132.4(WDR19):c.1502A>G (p.Tyr501Cys)
NM_025132.4(WDR19):c.1576G>A (p.Gly526Arg) rs1335665760
NM_025132.4(WDR19):c.1582_1585dup (p.Leu529Ter)
NM_025132.4(WDR19):c.165T>G (p.Gly55=)
NM_025132.4(WDR19):c.1673T>C (p.Ile558Thr) rs1730480639
NM_025132.4(WDR19):c.1768A>G (p.Thr590Ala)
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.180G>A (p.Met60Ile)
NM_025132.4(WDR19):c.1833G>C (p.Leu611Phe)
NM_025132.4(WDR19):c.186G>A (p.Trp62Ter)
NM_025132.4(WDR19):c.194A>G (p.Asp65Gly)
NM_025132.4(WDR19):c.1994C>A (p.Ala665Asp)
NM_025132.4(WDR19):c.1994C>T (p.Ala665Val)
NM_025132.4(WDR19):c.2004G>A (p.Met668Ile)
NM_025132.4(WDR19):c.2051C>G (p.Ala684Gly)
NM_025132.4(WDR19):c.2059C>T (p.His687Tyr) rs1577943727
NM_025132.4(WDR19):c.2138_2139del (p.Ile713fs)
NM_025132.4(WDR19):c.2149G>C (p.Glu717Gln)
NM_025132.4(WDR19):c.2196T>G (p.Asp732Glu)
NM_025132.4(WDR19):c.2233T>G (p.Cys745Gly)
NM_025132.4(WDR19):c.2285C>T (p.Ala762Val)
NM_025132.4(WDR19):c.2320A>T (p.Ile774Leu) rs762043395
NM_025132.4(WDR19):c.2341T>C (p.Tyr781His)
NM_025132.4(WDR19):c.235A>G (p.Ile79Val)
NM_025132.4(WDR19):c.2364-13_2364-9del
NM_025132.4(WDR19):c.2364-2del
NM_025132.4(WDR19):c.2364-4del rs750106753
NM_025132.4(WDR19):c.2388_2392dup (p.Tyr798fs)
NM_025132.4(WDR19):c.2421+5C>A rs563302411
NM_025132.4(WDR19):c.2421+5C>T
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.2491del (p.Val831fs)
NM_025132.4(WDR19):c.2519G>A (p.Arg840Lys)
NM_025132.4(WDR19):c.2528A>G (p.Lys843Arg)
NM_025132.4(WDR19):c.2558T>C (p.Met853Thr)
NM_025132.4(WDR19):c.257C>A (p.Thr86Lys)
NM_025132.4(WDR19):c.2599C>G (p.Leu867Val)
NM_025132.4(WDR19):c.2646-16G>T rs750485530
NM_025132.4(WDR19):c.2653G>A (p.Val885Ile)
NM_025132.4(WDR19):c.2691C>G (p.Ile897Met)
NM_025132.4(WDR19):c.2716del (p.Glu906fs)
NM_025132.4(WDR19):c.2730-1G>A
NM_025132.4(WDR19):c.2746G>A (p.Val916Ile)
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile) rs751386429
NM_025132.4(WDR19):c.2828A>G (p.Asn943Ser) rs778487491
NM_025132.4(WDR19):c.2845C>T (p.Gln949Ter)
NM_025132.4(WDR19):c.2858G>C (p.Gly953Ala)
NM_025132.4(WDR19):c.2873C>T (p.Ala958Val)
NM_025132.4(WDR19):c.2876+10T>A rs773692164
NM_025132.4(WDR19):c.2877-13T>C
NM_025132.4(WDR19):c.291-2A>G
NM_025132.4(WDR19):c.2944G>A (p.Glu982Lys)
NM_025132.4(WDR19):c.2987A>G (p.Tyr996Cys)
NM_025132.4(WDR19):c.302C>A (p.Ser101Tyr) rs1381726098
NM_025132.4(WDR19):c.3068_3069del (p.Tyr1023fs)
NM_025132.4(WDR19):c.3084del (p.Lys1028fs)
NM_025132.4(WDR19):c.3184-12C>A
NM_025132.4(WDR19):c.3184-2A>C rs1020915921
NM_025132.4(WDR19):c.3193G>A (p.Ala1065Thr)
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter) rs1401145684
NM_025132.4(WDR19):c.3359G>T (p.Gly1120Val)
NM_025132.4(WDR19):c.3436G>T (p.Glu1146Ter)
NM_025132.4(WDR19):c.3439A>G (p.Met1147Val) rs886059401
NM_025132.4(WDR19):c.3483+19C>G
NM_025132.4(WDR19):c.3520C>T (p.Arg1174Cys)
NM_025132.4(WDR19):c.3521G>T (p.Arg1174Leu) rs372719724
NM_025132.4(WDR19):c.3547A>T (p.Ile1183Phe)
NM_025132.4(WDR19):c.3548T>C (p.Ile1183Thr)
NM_025132.4(WDR19):c.355G>T (p.Gly119Ter)
NM_025132.4(WDR19):c.3566-6T>A
NM_025132.4(WDR19):c.3655A>G (p.Arg1219Gly)
NM_025132.4(WDR19):c.3659C>T (p.Pro1220Leu) rs1735748675
NM_025132.4(WDR19):c.3716+1G>A rs1191056931
NM_025132.4(WDR19):c.3723del (p.Asp1242fs)
NM_025132.4(WDR19):c.373A>C (p.Asn125His)
NM_025132.4(WDR19):c.377A>G (p.His126Arg)
NM_025132.4(WDR19):c.3784G>A (p.Glu1262Lys) rs1553919125
NM_025132.4(WDR19):c.3798dup (p.Cys1267fs)
NM_025132.4(WDR19):c.3917+6T>C
NM_025132.4(WDR19):c.3951T>C (p.Cys1317=) rs564992065
NM_025132.4(WDR19):c.4009C>G (p.Arg1337Gly) rs367721770
NM_025132.4(WDR19):c.4025T>C (p.Leu1342Pro)
NM_025132.4(WDR19):c.406+1G>T
NM_025132.4(WDR19):c.40G>A (p.Gly14Ser)
NM_025132.4(WDR19):c.415A>G (p.Thr139Ala)
NM_025132.4(WDR19):c.416C>A (p.Thr139Asn)
NM_025132.4(WDR19):c.467G>T (p.Gly156Val)
NM_025132.4(WDR19):c.513G>T (p.Thr171=) rs754543019
NM_025132.4(WDR19):c.523-1G>C
NM_025132.4(WDR19):c.6+6_6+8del rs748952637
NM_025132.4(WDR19):c.619G>A (p.Gly207Ser)
NM_025132.4(WDR19):c.632T>C (p.Leu211Ser)
NM_025132.4(WDR19):c.641dup (p.Leu214fs) rs587777348
NM_025132.4(WDR19):c.670G>C (p.Asp224His)
NM_025132.4(WDR19):c.717-1G>A
NM_025132.4(WDR19):c.814C>T (p.Arg272Cys) rs199812132
NM_025132.4(WDR19):c.821A>G (p.His274Arg)
NM_025132.4(WDR19):c.845C>A (p.Ala282Glu)
NM_025132.4(WDR19):c.952G>A (p.Glu318Lys)
NM_025132.4(WDR19):c.956A>G (p.Asn319Ser) rs1728875659
NM_025132.4(WDR19):c.961+2T>C rs1728876351
NM_025132.4(WDR19):c.98+1G>A

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