ClinVar Miner

List of variants reported as uncertain significance for craniosynostosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 365
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HGVS dbSNP gnomAD frequency
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser) rs878852992 0.00102
NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp) rs141383715 0.00084
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) rs201734382 0.00070
NM_004260.4(RECQL4):c.3317G>A (p.Arg1106His) rs34236392 0.00053
NM_052989.3(IFT122):c.3638T>C (p.Met1213Thr) rs140623081 0.00050
NM_004260.4(RECQL4):c.2543G>A (p.Arg848His) rs368989729 0.00049
NM_052989.3(IFT122):c.986C>T (p.Ala329Val) rs200915373 0.00049
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys) rs149578956 0.00039
NM_004260.4(RECQL4):c.3055+5G>A rs377031190 0.00038
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp) rs61744448 0.00038
NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn) rs148626512 0.00036
NM_001379081.2(FREM1):c.4489A>T (p.Ile1497Phe) rs377466529 0.00035
NM_004260.4(RECQL4):c.2417G>A (p.Gly806Glu) rs762456224 0.00035
NM_052989.3(IFT122):c.1310A>G (p.Asn437Ser) rs142655964 0.00035
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) rs199783864 0.00030
NM_025132.4(WDR19):c.3823C>G (p.Pro1275Ala) rs200670161 0.00027
NM_001102564.3(IFT43):c.583C>T (p.Gln195Ter) rs150616080 0.00025
NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn) rs200650442 0.00025
NM_004260.4(RECQL4):c.1159G>A (p.Gly387Arg) rs202043854 0.00024
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu) rs372950890 0.00023
NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys) rs117670586 0.00023
NM_001379081.2(FREM1):c.3756A>G (p.Gln1252=) rs373197206 0.00022
NM_004260.4(RECQL4):c.3013C>T (p.Arg1005Trp) rs368982201 0.00022
NM_004260.4(RECQL4):c.2351G>A (p.Arg784Gln) rs536096413 0.00020
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln) rs567310076 0.00020
NM_052989.3(IFT122):c.2420C>T (p.Pro807Leu) rs193183329 0.00020
NM_001102564.3(IFT43):c.16G>C (p.Asp6His) rs201966792 0.00019
NM_001379081.2(FREM1):c.2896G>A (p.Gly966Ser) rs373345277 0.00019
NM_001379081.2(FREM1):c.550G>A (p.Ala184Thr) rs199682518 0.00019
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala) rs199678654 0.00019
NM_052989.3(IFT122):c.2760G>A (p.Met920Ile) rs374188891 0.00019
NM_052989.3(IFT122):c.478A>G (p.Asn160Asp) rs199886551 0.00019
NM_004260.4(RECQL4):c.1697T>C (p.Leu566Pro) rs201648505 0.00018
NM_001102564.3(IFT43):c.444+5G>A rs377078385 0.00017
NM_001379081.2(FREM1):c.1345C>T (p.Arg449Trp) rs148995688 0.00017
NM_025132.4(WDR19):c.2720C>T (p.Ala907Val) rs201967816 0.00017
NM_052989.3(IFT122):c.2599C>A (p.Pro867Thr) rs144831946 0.00017
NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe) rs201692401 0.00016
NM_001395413.1(POR):c.1208G>A (p.Arg403His) rs72557929 0.00016
NM_004260.4(RECQL4):c.1684C>T (p.Arg562Trp) rs61759892 0.00016
NM_016277.5(RAB23):c.346A>G (p.Thr116Ala) rs138803099 0.00016
NM_001379081.2(FREM1):c.2450G>A (p.Arg817Gln) rs200495440 0.00015
NM_001379081.2(FREM1):c.4069G>A (p.Gly1357Arg) rs775399423 0.00015
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg) rs200482627 0.00014
NM_052989.3(IFT122):c.1430A>G (p.Lys477Arg) rs141539693 0.00014
NM_001379081.2(FREM1):c.3857T>G (p.Met1286Arg) rs375951503 0.00013
NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro) rs535692036 0.00013
NM_025132.4(WDR19):c.3483+5G>A rs201216969 0.00013
NM_000141.5(FGFR2):c.2426T>C (p.Leu809Pro) rs368003279 0.00011
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr) rs372430349 0.00011
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) rs139773438 0.00011
NM_001379081.2(FREM1):c.3860A>G (p.Asn1287Ser) rs748356480 0.00011
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met) rs201617511 0.00011
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr) rs544709718 0.00011
NM_025132.4(WDR19):c.1796C>T (p.Ala599Val) rs193273000 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_052989.3(IFT122):c.3131C>T (p.Ala1044Val) rs147341636 0.00011
NM_001102564.3(IFT43):c.92C>T (p.Ala31Val) rs147933112 0.00010
NM_001379081.2(FREM1):c.6010-3A>G rs191713464 0.00010
NM_004260.4(RECQL4):c.1064G>A (p.Arg355Gln) rs374743591 0.00010
NM_004260.4(RECQL4):c.1130A>T (p.Gln377Leu) rs944826681 0.00010
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys) rs767195580 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_052989.3(IFT122):c.229G>A (p.Val77Ile) rs369525803 0.00010
NM_001379081.2(FREM1):c.2420C>G (p.Thr807Ser) rs768631811 0.00009
NM_001379081.2(FREM1):c.261C>T (p.Asn87=) rs370943663 0.00009
NM_001379081.2(FREM1):c.4552G>T (p.Ala1518Ser) rs775792241 0.00009
NM_001379081.2(FREM1):c.6430C>T (p.Arg2144Cys) rs747977032 0.00009
NM_004260.4(RECQL4):c.2297G>A (p.Arg766Gln) rs931761657 0.00009
NM_004260.4(RECQL4):c.2425G>A (p.Gly809Arg) rs769977498 0.00009
NM_004260.4(RECQL4):c.385C>T (p.Pro129Ser) rs201542692 0.00009
NM_004260.4(RECQL4):c.646G>A (p.Glu216Lys) rs201301365 0.00009
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His) rs369356672 0.00009
NM_025132.4(WDR19):c.3967G>A (p.Ala1323Thr) rs563367049 0.00009
NM_052989.3(IFT122):c.2992A>G (p.Ile998Val) rs115715082 0.00009
NM_052989.3(IFT122):c.3698G>A (p.Arg1233His) rs201755623 0.00009
NM_003036.4(SKI):c.1109T>C (p.Val370Ala) rs138088528 0.00008
NM_004260.4(RECQL4):c.1151G>A (p.Arg384Gln) rs376045624 0.00008
NM_004260.4(RECQL4):c.2226G>T (p.Glu742Asp) rs200002105 0.00008
NM_004260.4(RECQL4):c.2251C>T (p.Arg751Trp) rs750304658 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_052989.3(IFT122):c.2600C>T (p.Pro867Leu) rs147499719 0.00008
NM_052989.3(IFT122):c.938G>A (p.Arg313Gln) rs376018883 0.00008
NM_000141.5(FGFR2):c.182G>A (p.Arg61His) rs199575491 0.00007
NM_004260.4(RECQL4):c.1900G>A (p.Val634Met) rs747895651 0.00007
NM_004260.4(RECQL4):c.2252G>A (p.Arg751Gln) rs559066300 0.00007
NM_004260.4(RECQL4):c.2386G>A (p.Glu796Lys) rs746005466 0.00007
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys) rs781310679 0.00007
NM_025132.4(WDR19):c.1391G>A (p.Arg464His) rs369201153 0.00007
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg) rs756321262 0.00007
NM_052989.3(IFT122):c.2215C>T (p.Leu739Phe) rs763332787 0.00007
NM_001102564.3(IFT43):c.459C>A (p.Asp153Glu) rs778799892 0.00006
NM_001102564.3(IFT43):c.517G>A (p.Gly173Ser) rs554856028 0.00006
NM_001379081.2(FREM1):c.1394-15T>C rs762215552 0.00006
NM_001379081.2(FREM1):c.2795G>A (p.Arg932His) rs763918482 0.00006
NM_001379081.2(FREM1):c.3542A>T (p.Asp1181Val) rs200883446 0.00006
NM_001379081.2(FREM1):c.5188T>G (p.Ser1730Ala) rs370677344 0.00006
NM_001379081.2(FREM1):c.578C>G (p.Pro193Arg) rs377565472 0.00006
NM_001395413.1(POR):c.1465G>A (p.Val489Met) rs377451454 0.00006
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr) rs756553942 0.00006
NM_004260.4(RECQL4):c.1043A>G (p.His348Arg) rs201763704 0.00006
NM_004260.4(RECQL4):c.1892G>A (p.Arg631His) rs771179943 0.00006
NM_004260.4(RECQL4):c.2687T>C (p.Val896Ala) rs373763805 0.00006
NM_004260.4(RECQL4):c.3112C>T (p.Arg1038Cys) rs763078132 0.00006
NM_004260.4(RECQL4):c.3358G>A (p.Glu1120Lys) rs776023102 0.00006
NM_004260.4(RECQL4):c.742C>T (p.Arg248Cys) rs540719285 0.00006
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile) rs752627281 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_052989.3(IFT122):c.1760G>A (p.Arg587Gln) rs146270512 0.00006
NM_052989.3(IFT122):c.1940G>A (p.Arg647His) rs750301228 0.00006
NM_052989.3(IFT122):c.475C>T (p.Arg159Trp) rs140547512 0.00006
NM_000141.5(FGFR2):c.16C>T (p.Arg6Cys) rs141724446 0.00005
NM_004260.4(RECQL4):c.2144G>A (p.Arg715Gln) rs184775551 0.00005
NM_004260.4(RECQL4):c.2344G>A (p.Asp782Asn) rs758319706 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_052989.3(IFT122):c.3217G>A (p.Val1073Ile) rs138028750 0.00005
NM_052989.3(IFT122):c.937C>T (p.Arg313Trp) rs755493101 0.00005
NM_001102564.3(IFT43):c.587C>T (p.Thr196Met) rs759241440 0.00004
NM_001379081.2(FREM1):c.241G>A (p.Asp81Asn) rs749580522 0.00004
NM_001379081.2(FREM1):c.3904A>G (p.Ile1302Val) rs577186728 0.00004
NM_001379081.2(FREM1):c.5779C>T (p.Arg1927Cys) rs754692429 0.00004
NM_001379081.2(FREM1):c.5942T>A (p.Ile1981Asn) rs183882265 0.00004
NM_001379081.2(FREM1):c.6104G>A (p.Gly2035Glu) rs771531342 0.00004
NM_001379081.2(FREM1):c.6286A>G (p.Arg2096Gly) rs377200008 0.00004
NM_001395413.1(POR):c.311G>A (p.Arg104His) rs782776557 0.00004
NM_004260.4(RECQL4):c.1561C>T (p.Arg521Trp) rs555407951 0.00004
NM_004260.4(RECQL4):c.1570C>T (p.Pro524Ser) rs374965803 0.00004
NM_004260.4(RECQL4):c.2129G>A (p.Arg710His) rs781121286 0.00004
NM_004260.4(RECQL4):c.2329G>T (p.Gly777Trp) rs377173936 0.00004
NM_004260.4(RECQL4):c.2761G>A (p.Glu921Lys) rs371890521 0.00004
NM_016277.5(RAB23):c.670A>T (p.Thr224Ser) rs748638791 0.00004
NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr) rs759376422 0.00004
NM_023110.3(FGFR1):c.566G>A (p.Arg189His) rs778166317 0.00004
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys) rs201148758 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_052989.3(IFT122):c.1294A>G (p.Lys432Glu) rs781181264 0.00004
NM_052989.3(IFT122):c.2383G>A (p.Asp795Asn) rs76007598 0.00004
NM_052989.3(IFT122):c.2681C>T (p.Ala894Val) rs376549217 0.00004
NM_052989.3(IFT122):c.273-346C>T rs778846137 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_052989.3(IFT122):c.3056A>G (p.Tyr1019Cys) rs553449191 0.00004
NM_052989.3(IFT122):c.3194C>T (p.Pro1065Leu) rs368574590 0.00004
NM_052989.3(IFT122):c.349+5G>A rs376595844 0.00004
NM_052989.3(IFT122):c.524C>T (p.Ser175Phe) rs777645844 0.00004
NM_000141.5(FGFR2):c.362T>C (p.Met121Thr) rs748322657 0.00003
NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe) rs747171741 0.00003
NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu) rs745848425 0.00003
NM_001379081.2(FREM1):c.1357G>A (p.Val453Ile) rs748962196 0.00003
NM_001379081.2(FREM1):c.2113A>G (p.Ser705Gly) rs200490112 0.00003
NM_001379081.2(FREM1):c.3148G>A (p.Ala1050Thr) rs556974765 0.00003
NM_001395413.1(POR):c.205T>C (p.Phe69Leu) rs782107314 0.00003
NM_003036.4(SKI):c.142A>C (p.Lys48Gln) rs946543006 0.00003
NM_003036.4(SKI):c.1877A>T (p.Lys626Met) rs774106502 0.00003
NM_004260.4(RECQL4):c.1853G>A (p.Arg618Gln) rs776616498 0.00003
NM_004260.4(RECQL4):c.20T>G (p.Val7Gly) rs781721739 0.00003
NM_004260.4(RECQL4):c.2587G>A (p.Glu863Lys) rs747237323 0.00003
NM_004260.4(RECQL4):c.3509C>T (p.Pro1170Leu) rs772265082 0.00003
NM_004260.4(RECQL4):c.3528G>A (p.Val1176=) rs763965257 0.00003
NM_004260.4(RECQL4):c.3532G>A (p.Gly1178Arg) rs776146178 0.00003
NM_023110.3(FGFR1):c.1424G>A (p.Arg475Gln) rs747333248 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.3749C>T (p.Thr1250Met) rs529745222 0.00003
NM_025132.4(WDR19):c.778C>T (p.His260Tyr) rs754678482 0.00003
NM_052989.3(IFT122):c.2720C>T (p.Ala907Val) rs377690924 0.00003
NM_052989.3(IFT122):c.2840G>A (p.Arg947His) rs760810819 0.00003
NM_052989.3(IFT122):c.3521G>A (p.Arg1174His) rs143602964 0.00003
NM_052989.3(IFT122):c.3642C>G (p.Phe1214Leu) rs751262275 0.00003
NM_000141.5(FGFR2):c.1085C>T (p.Ala362Val) rs757846343 0.00002
NM_000141.5(FGFR2):c.1238C>T (p.Pro413Leu) rs372348666 0.00002
NM_000141.5(FGFR2):c.1328C>T (p.Pro443Leu) rs757125418 0.00002
NM_000141.5(FGFR2):c.1348C>T (p.Arg450Cys) rs536181987 0.00002
NM_000141.5(FGFR2):c.1561+6C>T rs781352732 0.00002
NM_000142.5(FGFR3):c.1267G>C (p.Val423Leu) rs1256546303 0.00002
NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) rs764892330 0.00002
NM_001102564.3(IFT43):c.296-5681A>G rs755977535 0.00002
NM_001102564.3(IFT43):c.398G>A (p.Arg133His) rs755396441 0.00002
NM_001102564.3(IFT43):c.502C>T (p.Arg168Trp) rs1483926431 0.00002
NM_004260.4(RECQL4):c.1460G>A (p.Arg487His) rs775200679 0.00002
NM_004260.4(RECQL4):c.1472G>A (p.Arg491Gln) rs777256889 0.00002
NM_004260.4(RECQL4):c.1867C>T (p.Arg623Cys) rs772515188 0.00002
NM_004260.4(RECQL4):c.2303T>C (p.Val768Ala) rs370863264 0.00002
NM_004260.4(RECQL4):c.2983T>A (p.Ser995Thr) rs373202723 0.00002
NM_004260.4(RECQL4):c.3428T>C (p.Ile1143Thr) rs759478327 0.00002
NM_020779.4(WDR35):c.1435A>G (p.Met479Val) rs797046099 0.00002
NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys) rs777103792 0.00002
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp) rs749903780 0.00002
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His) rs374473310 0.00002
NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln) rs771680156 0.00002
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His) rs758677681 0.00002
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu) rs145434725 0.00002
NM_025132.4(WDR19):c.1486G>A (p.Val496Ile) rs1482640692 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.4014G>A (p.Thr1338=) rs763555032 0.00002
NM_025132.4(WDR19):c.512C>T (p.Thr171Met) rs777646123 0.00002
NM_052989.3(IFT122):c.1577G>A (p.Arg526His) rs754275024 0.00002
NM_052989.3(IFT122):c.2629C>T (p.Arg877Cys) rs773080594 0.00002
NM_052989.3(IFT122):c.3053C>G (p.Ala1018Gly) rs767833675 0.00002
NM_052989.3(IFT122):c.3068G>A (p.Arg1023His) rs753932809 0.00002
NM_052989.3(IFT122):c.3233G>T (p.Arg1078Leu) rs1269892119 0.00002
NM_052989.3(IFT122):c.511C>T (p.Arg171Trp) rs1064794186 0.00002
NM_000141.5(FGFR2):c.*1369C>T rs886046759 0.00001
NM_000141.5(FGFR2):c.1240G>A (p.Ala414Thr) rs769880096 0.00001
NM_000141.5(FGFR2):c.138A>C (p.Gln46His) rs748117555 0.00001
NM_000141.5(FGFR2):c.1985A>G (p.Asn662Ser) rs962103382 0.00001
NM_000141.5(FGFR2):c.2077A>G (p.Met693Val) rs774682374 0.00001
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) rs779326224 0.00001
NM_000141.5(FGFR2):c.910G>A (p.Asp304Asn) rs370877537 0.00001
NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe) rs770029887 0.00001
NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly) rs772276122 0.00001
NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser) rs533866031 0.00001
NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) rs369232922 0.00001
NM_000142.5(FGFR3):c.2413C>T (p.Arg805Trp) rs369758941 0.00001
NM_001102564.3(IFT43):c.176G>A (p.Arg59Gln) rs756786140 0.00001
NM_001102564.3(IFT43):c.31C>T (p.Leu11Phe) rs756188997 0.00001
NM_001102564.3(IFT43):c.34C>T (p.Arg12Cys) rs749145719 0.00001
NM_001102564.3(IFT43):c.361C>T (p.Pro121Ser) rs1359937590 0.00001
NM_001102564.3(IFT43):c.469C>A (p.Leu157Ile) rs1414874776 0.00001
NM_001102564.3(IFT43):c.485C>T (p.Ala162Val) rs371422510 0.00001
NM_001102564.3(IFT43):c.498A>T (p.Glu166Asp) rs141866033 0.00001
NM_001102564.3(IFT43):c.540C>A (p.Phe180Leu) rs894168247 0.00001
NM_001102564.3(IFT43):c.605C>T (p.Ala202Val) rs764790125 0.00001
NM_001379081.2(FREM1):c.2170C>T (p.His724Tyr) rs755724341 0.00001
NM_001379081.2(FREM1):c.292A>G (p.Ile98Val) rs371148891 0.00001
NM_001379081.2(FREM1):c.3562A>G (p.Thr1188Ala) rs761348644 0.00001
NM_001379081.2(FREM1):c.3813T>A (p.Val1271=) rs745782166 0.00001
NM_001379081.2(FREM1):c.382C>G (p.Leu128Val) rs886043843 0.00001
NM_001379081.2(FREM1):c.4477G>A (p.Gly1493Arg) rs536683402 0.00001
NM_001379081.2(FREM1):c.5072A>G (p.His1691Arg) rs755062740 0.00001
NM_001379081.2(FREM1):c.5249A>G (p.Tyr1750Cys) rs762799389 0.00001
NM_001379081.2(FREM1):c.544C>G (p.Leu182Val) rs1230078063 0.00001
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu) rs370645073 0.00001
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln) rs200874294 0.00001
NM_003036.4(SKI):c.2040C>G (p.Asp680Glu) rs557791923 0.00001
NM_003036.4(SKI):c.464C>G (p.Ala155Gly) rs559020511 0.00001
NM_004260.4(RECQL4):c.1885C>T (p.Arg629Trp) rs772074149 0.00001
NM_004260.4(RECQL4):c.1886G>A (p.Arg629Gln) rs761794554 0.00001
NM_004260.4(RECQL4):c.2120G>A (p.Cys707Tyr) rs1351785836 0.00001
NM_004260.4(RECQL4):c.2410C>T (p.Arg804Trp) rs753536598 0.00001
NM_004260.4(RECQL4):c.3113G>A (p.Arg1038His) rs374254271 0.00001
NM_004260.4(RECQL4):c.539G>A (p.Ser180Asn) rs1060501378 0.00001
NM_004260.4(RECQL4):c.758A>G (p.Gln253Arg) rs373588660 0.00001
NM_020779.4(WDR35):c.1930C>G (p.Pro644Ala) rs758919526 0.00001
NM_023110.3(FGFR1):c.*112C>T rs1189535138 0.00001
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile) rs774768179 0.00001
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser) rs377648976 0.00001
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys) rs1085307493 0.00001
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp) rs781608303 0.00001
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser) rs397515444 0.00001
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys) rs771720144 0.00001
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln) rs200116660 0.00001
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg) rs532741632 0.00001
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp) rs1329256283 0.00001
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp) rs377149398 0.00001
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs) rs767698667 0.00001
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile) rs775020833 0.00001
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile) rs747842199 0.00001
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu) rs750795714 0.00001
NM_023110.3(FGFR1):c.442C>T (p.Arg148Cys) rs780153672 0.00001
NM_023110.3(FGFR1):c.443G>A (p.Arg148His) rs515726222 0.00001
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg) rs770139002 0.00001
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn) rs751651299 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.1535G>A (p.Arg512Gln) rs537283735 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.2618C>T (p.Ala873Val) rs746141233 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.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.3808T>A (p.Cys1270Ser) rs1035768119 0.00001
NM_025132.4(WDR19):c.389G>A (p.Arg130Gln) rs747065633 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_052989.3(IFT122):c.1009G>C (p.Val337Leu) rs769712676 0.00001
NM_052989.3(IFT122):c.1024G>A (p.Asp342Asn) rs768644199 0.00001
NM_052989.3(IFT122):c.1759C>T (p.Arg587Trp) rs774723842 0.00001
NM_052989.3(IFT122):c.2018G>A (p.Arg673Gln) rs140911243 0.00001
NM_052989.3(IFT122):c.2245A>T (p.Met749Leu) rs794727330 0.00001
NM_052989.3(IFT122):c.2299G>A (p.Ala767Thr) rs199856807 0.00001
NM_052989.3(IFT122):c.3191A>G (p.Asn1064Ser) rs767491295 0.00001
NM_052989.3(IFT122):c.3263A>G (p.Tyr1088Cys) rs774343448 0.00001
NM_052989.3(IFT122):c.410G>C (p.Cys137Ser) rs1278478989 0.00001
NM_000141.5(FGFR2):c.-17G>C rs766629665
NM_000141.5(FGFR2):c.1562-9_1562-7delinsAA rs2133978031
NM_000141.5(FGFR2):c.1735C>T (p.Arg579Trp) rs1564875549
NM_000141.5(FGFR2):c.2444_2445del (p.Ile815fs) rs771208561
NM_000141.5(FGFR2):c.287G>A (p.Gly96Asp) rs1277734487
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) rs2134317947
NM_000141.5(FGFR2):c.877C>T (p.His293Tyr) rs748526473
NM_000142.5(FGFR3):c.1946A>G (p.Lys649Arg) rs1448029825
NM_001102564.3(IFT43):c.322G>A (p.Glu108Lys) rs776120367
NM_001102564.3(IFT43):c.91G>C (p.Ala31Pro) rs1330242492
NM_001379081.2(FREM1):c.2042C>T (p.Thr681Ile) rs1298355353
NM_001379081.2(FREM1):c.347C>G (p.Thr116Ser) rs747949999
NM_001379081.2(FREM1):c.3513C>G (p.Ile1171Met) rs774280190
NM_001379081.2(FREM1):c.4055G>C (p.Arg1352Thr) rs547296209
NM_001379081.2(FREM1):c.4500G>A (p.Glu1500=) rs561131255
NM_001379081.2(FREM1):c.6298C>T (p.Arg2100Trp) rs200489692
NM_001379081.2(FREM1):c.6454G>A (p.Val2152Ile) rs886063764
NM_001379081.2(FREM1):c.922G>C (p.Asp308His) rs764642854
NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)
NM_001395413.1(POR):c.1577C>T (p.Thr526Met) rs782248163
NM_004260.4(RECQL4):c.1073T>G (p.Met358Arg) rs376652305
NM_004260.4(RECQL4):c.1291G>A (p.Glu431Lys) rs1828015944
NM_004260.4(RECQL4):c.1649C>T (p.Ala550Val) rs764297840
NM_004260.4(RECQL4):c.1939C>G (p.Arg647Gly) rs775127620
NM_004260.4(RECQL4):c.2099T>C (p.Leu700Pro) rs563222200
NM_004260.4(RECQL4):c.2148C>G (p.Ile716Met) rs772168426
NM_004260.4(RECQL4):c.2486G>A (p.Arg829His) rs375250269
NM_004260.4(RECQL4):c.3172C>G (p.Arg1058Gly) rs375297971
NM_004260.4(RECQL4):c.3496G>A (p.Gly1166Ser) rs779410033
NM_004260.4(RECQL4):c.3542G>A (p.Arg1181Gln) rs370069034
NM_004260.4(RECQL4):c.466A>T (p.Ser156Cys) rs1586826374
NM_020779.4(WDR35):c.2129G>T (p.Arg710Leu) rs370797645
NM_023110.3(FGFR1):c.-88-3566dup rs1424371425
NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg) rs759552236
NM_023110.3(FGFR1):c.1727G>A (p.Arg576Gln) rs1482868825
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met) rs2150520798
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu) rs1232665126
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.2059C>T (p.His687Tyr) rs1577943727
NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly) rs886059400
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.814C>T (p.Arg272Cys) rs199812132
NM_052989.3(IFT122):c.2165C>T (p.Ala722Val) rs143662777
NM_052989.3(IFT122):c.2537G>A (p.Arg846His) rs370415289
NM_052989.3(IFT122):c.2630G>A (p.Arg877His) rs561698295
NM_052989.3(IFT122):c.3127C>T (p.Arg1043Cys) rs555281580
NM_052989.3(IFT122):c.3586C>T (p.Arg1196Cys) rs201590142

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