ClinVar Miner

List of variants studied for inherited focal segmental glomerulosclerosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 343
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000278.5(PAX2):c.798C>T (p.Asn266=) rs1800897 0.12916
NM_004998.4(MYO1E):c.511-19A>T rs2306782 0.01292
NM_022489.4(INF2):c.42G>A (p.Leu14=) rs62638758 0.01192
NM_022489.4(INF2):c.3153C>T (p.Asp1051=) rs117457867 0.01185
NM_018685.5(ANLN):c.1686G>A (p.Ser562=) rs34371129 0.01094
NM_018685.5(ANLN):c.2971-12T>G rs6954957 0.01028
NM_000278.5(PAX2):c.792+9G>A rs79552202 0.00974
NM_004998.4(MYO1E):c.643-4C>T rs73422973 0.00956
NM_004998.4(MYO1E):c.2130G>A (p.Val710=) rs114132435 0.00944
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) rs112545413 0.00927
NM_004621.6(TRPC6):c.2088C>T (p.Asn696=) rs61739601 0.00801
NM_173689.7(CRB2):c.1828C>T (p.Arg610Trp) rs145286619 0.00688
NM_004998.4(MYO1E):c.1617-12C>G rs192317472 0.00636
NM_022489.4(INF2):c.879G>A (p.Ser293=) rs184709736 0.00543
NM_004924.6(ACTN4):c.1611G>A (p.Ala537=) rs150183570 0.00498
NM_022489.4(INF2):c.1263A>C (p.Pro421=) rs761903419 0.00483
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr) rs201323100 0.00470
NM_173689.7(CRB2):c.2748C>T (p.Ala916=) rs372726074 0.00422
NM_004924.6(ACTN4):c.1218C>A (p.Arg406=) rs148259739 0.00334
NM_004998.4(MYO1E):c.2304C>T (p.Asp768=) rs145459485 0.00334
NM_004924.6(ACTN4):c.1770C>T (p.Ile590=) rs140707871 0.00240
NM_173689.7(CRB2):c.2817G>C (p.Leu939=) rs148565778 0.00240
NM_004924.6(ACTN4):c.1608C>T (p.Arg536=) rs139575917 0.00232
NM_004621.6(TRPC6):c.1818T>C (p.Ser606=) rs139187399 0.00222
NM_004924.6(ACTN4):c.1425C>T (p.Ala475=) rs144388375 0.00222
NM_022489.4(INF2):c.2138+9G>A rs201065953 0.00213
NM_004998.4(MYO1E):c.978G>A (p.Arg326=) rs141570155 0.00199
NM_018685.5(ANLN):c.3325A>G (p.Ile1109Val) rs141247770 0.00189
NM_173689.7(CRB2):c.2789C>T (p.Ala930Val) rs561402183 0.00178
NM_022489.4(INF2):c.2490-20C>T rs187104422 0.00170
NM_022489.4(INF2):c.558C>T (p.Ser186=) rs150714865 0.00158
NM_022489.4(INF2):c.264C>T (p.Gly88=) rs201587219 0.00150
NM_173689.7(CRB2):c.606G>A (p.Leu202=) rs201174974 0.00130
NM_004998.4(MYO1E):c.147+14G>T rs183374173 0.00123
NM_004998.4(MYO1E):c.1616+17A>G rs138790400 0.00120
NM_004924.6(ACTN4):c.738C>T (p.Ile246=) rs34491236 0.00115
NM_004924.6(ACTN4):c.2016C>T (p.Ile672=) rs137985903 0.00110
NM_000278.5(PAX2):c.213-8C>T rs369615430 0.00101
NM_004998.4(MYO1E):c.554A>G (p.Asp185Gly) rs141565214 0.00101
NM_022489.4(INF2):c.507+7G>A rs201568246 0.00095
NM_000278.5(PAX2):c.819G>C (p.Leu273=) rs144433354 0.00090
NM_173689.7(CRB2):c.516C>T (p.Cys172=) rs146687164 0.00083
NM_004998.4(MYO1E):c.2627+8C>T rs12232341 0.00074
NM_004998.4(MYO1E):c.511-17C>T rs118012522 0.00071
NM_004924.6(ACTN4):c.2400C>T (p.Asp800=) rs138139611 0.00066
NM_004924.6(ACTN4):c.1341G>A (p.Ser447=) rs139243684 0.00052
NM_004998.4(MYO1E):c.669G>A (p.Gln223=) rs142105673 0.00049
NM_000278.5(PAX2):c.212+12G>A rs546505132 0.00048
NM_004924.6(ACTN4):c.2316G>A (p.Ala772=) rs192382222 0.00048
NM_004998.4(MYO1E):c.1530+14C>T rs116371817 0.00043
NM_004998.4(MYO1E):c.2878+19G>A rs200710336 0.00043
NM_004924.6(ACTN4):c.2011-5C>T rs372743117 0.00041
NM_000278.5(PAX2):c.354C>T (p.Leu118=) rs142934523 0.00040
NM_022489.4(INF2):c.1773C>T (p.Asp591=) rs201853087 0.00038
NM_022489.4(INF2):c.2181G>A (p.Ala727=) rs370830904 0.00038
NM_004621.6(TRPC6):c.948T>C (p.Asn316=) rs139477687 0.00035
NM_004924.6(ACTN4):c.2191-5C>T rs186662077 0.00035
NM_004924.6(ACTN4):c.1515C>T (p.Leu505=) rs147922933 0.00034
NM_004998.4(MYO1E):c.2335-13C>T rs775751894 0.00034
NM_004924.6(ACTN4):c.2679C>T (p.Pro893=) rs146493523 0.00033
NM_004924.6(ACTN4):c.297G>A (p.Pro99=) rs144919593 0.00032
NM_022489.4(INF2):c.2775+20C>A rs532636302 0.00032
NM_018685.5(ANLN):c.173-16A>G rs181560875 0.00031
NM_004998.4(MYO1E):c.1065C>T (p.Leu355=) rs146652440 0.00030
NM_022489.4(INF2):c.1632T>C (p.His544=) rs374940901 0.00030
NM_004621.6(TRPC6):c.253_264dup (p.Ala85_Phe88dup) rs778276152 0.00029
NM_004621.6(TRPC6):c.888G>A (p.Thr296=) rs144891994 0.00029
NM_173689.7(CRB2):c.2821G>A (p.Gly941Ser) rs780391222 0.00029
NM_022489.4(INF2):c.609C>T (p.Ala203=) rs140017506 0.00028
NM_000278.5(PAX2):c.491C>A (p.Thr164Asn) rs370214925 0.00026
NM_004998.4(MYO1E):c.772A>G (p.Thr258Ala) rs369774689 0.00026
NM_004621.6(TRPC6):c.-125C>T rs201034657 0.00025
NM_000278.5(PAX2):c.963C>T (p.His321=) rs138750534 0.00024
NM_004924.6(ACTN4):c.2469C>T (p.Ser823=) rs143282009 0.00024
NM_018685.5(ANLN):c.31C>T (p.Arg11Ter) rs200989750 0.00023
NM_004621.6(TRPC6):c.374A>G (p.Asn125Ser) rs146776939 0.00022
NM_004924.6(ACTN4):c.2673C>T (p.Ala891=) rs140419295 0.00022
NM_022489.4(INF2):c.1736-18C>T rs199612826 0.00022
NM_004924.6(ACTN4):c.1712A>G (p.Asp571Gly) rs367745869 0.00021
NM_004998.4(MYO1E):c.1805+7G>A rs561678142 0.00021
NM_004998.4(MYO1E):c.2628-8T>C rs373053697 0.00021
NM_004998.4(MYO1E):c.2640G>A (p.Lys880=) rs144794852 0.00021
NM_173689.7(CRB2):c.1217C>T (p.Pro406Leu) rs34802652 0.00021
NM_004998.4(MYO1E):c.2164+12A>G rs187897054 0.00020
NM_004924.6(ACTN4):c.1291+4C>T rs201704771 0.00018
NM_004924.6(ACTN4):c.2652G>A (p.Ala884=) rs202127035 0.00018
NM_022489.4(INF2):c.2418+10G>T rs748035327 0.00018
NM_004998.4(MYO1E):c.1151T>C (p.Ile384Thr) rs142638347 0.00017
NM_000278.5(PAX2):c.496+9G>T rs577483360 0.00016
NM_004924.6(ACTN4):c.894C>T (p.Tyr298=) rs568574676 0.00016
NM_004924.6(ACTN4):c.2641G>A (p.Ala881Thr) rs148628123 0.00015
NM_004998.4(MYO1E):c.1734A>G (p.Lys578=) rs200987052 0.00015
NM_022489.4(INF2):c.1736-6C>T rs371991103 0.00015
NM_022489.4(INF2):c.306C>T (p.Val102=) rs748335660 0.00014
NM_022489.4(INF2):c.3684G>A (p.Arg1228=) rs189263181 0.00014
NM_004924.6(ACTN4):c.1902C>T (p.Asp634=) rs139162351 0.00013
NM_004998.4(MYO1E):c.1747T>C (p.Tyr583His) rs370199714 0.00013
NM_004998.4(MYO1E):c.1999G>A (p.Asp667Asn) rs368888160 0.00013
NM_022489.4(INF2):c.1755G>A (p.Ala585=) rs375573206 0.00013
NM_000278.5(PAX2):c.411-11C>T rs541291517 0.00012
NM_004998.4(MYO1E):c.755_760del (p.Arg252_Glu254delinsLys) rs774652175 0.00012
NM_022489.4(INF2):c.744C>T (p.Phe248=) rs372799744 0.00012
NM_004924.6(ACTN4):c.2520C>T (p.Thr840=) rs372396071 0.00011
NM_004998.4(MYO1E):c.3081-6C>T rs201630409 0.00011
NM_022489.4(INF2):c.1770C>T (p.Pro590=) rs549506051 0.00011
NM_022489.4(INF2):c.2053-16G>A rs371712402 0.00011
NM_022489.4(INF2):c.2239+16C>T rs370364755 0.00011
NM_022489.4(INF2):c.2367G>A (p.Thr789=) rs368194536 0.00011
NM_022489.4(INF2):c.2766C>T (p.Arg922=) rs201044782 0.00011
NM_022489.4(INF2):c.3209G>A (p.Arg1070Gln) rs374424323 0.00011
NM_022489.4(INF2):c.844-6G>A rs370399987 0.00011
NM_004621.6(TRPC6):c.667A>G (p.Ile223Val) rs150033580 0.00010
NM_004924.6(ACTN4):c.928C>T (p.Arg310Trp) rs756003995 0.00010
NM_004998.4(MYO1E):c.3007A>G (p.Thr1003Ala) rs762762940 0.00010
NM_022489.4(INF2):c.1458C>T (p.Phe486=) rs1420347614 0.00010
NM_022489.4(INF2):c.3040+11C>T rs374390500 0.00010
NM_022489.4(INF2):c.474C>T (p.His158=) rs141172921 0.00010
NM_004621.6(TRPC6):c.5G>C (p.Ser2Thr) rs886039885 0.00009
NM_022489.4(INF2):c.1640G>A (p.Gly547Asp) rs376451593 0.00009
NM_022489.4(INF2):c.1806C>T (p.Ile602=) rs760506368 0.00009
NM_022489.4(INF2):c.2622G>A (p.Ser874=) rs374311535 0.00009
NM_022489.4(INF2):c.354C>T (p.Ile118=) rs771038193 0.00009
NM_022489.4(INF2):c.798C>G (p.Val266=) rs375005967 0.00009
NM_004621.6(TRPC6):c.2711A>G (p.Gln904Arg) rs148529934 0.00008
NM_022489.4(INF2):c.668-12G>A rs367924307 0.00008
NM_000278.5(PAX2):c.529G>A (p.Ala177Thr) rs749684940 0.00007
NM_004998.4(MYO1E):c.2298C>T (p.Phe766=) rs370612369 0.00007
NM_022489.4(INF2):c.1377G>A (p.Pro459=) rs776870726 0.00007
NM_022489.4(INF2):c.1588G>A (p.Val530Met) rs369984449 0.00007
NM_000278.5(PAX2):c.528C>T (p.Ser176=) rs369240774 0.00006
NM_004924.6(ACTN4):c.1868G>T (p.Trp623Leu) rs368256210 0.00006
NM_004924.6(ACTN4):c.2191-4G>A rs371779934 0.00006
NM_004924.6(ACTN4):c.2620G>A (p.Asp874Asn) rs753091185 0.00006
NM_004924.6(ACTN4):c.55G>T (p.Gly19Cys) rs372129305 0.00006
NM_004998.4(MYO1E):c.2099G>A (p.Arg700Gln) rs757483863 0.00006
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln) rs759989953 0.00006
NM_022489.4(INF2):c.2755C>G (p.Leu919Val) rs377145979 0.00006
NM_022489.4(INF2):c.2879-10C>T rs534732317 0.00006
NM_022489.4(INF2):c.3591G>A (p.Ala1197=) rs765090867 0.00006
NM_000278.5(PAX2):c.563A>G (p.Asn188Ser) rs767995614 0.00005
NM_000278.5(PAX2):c.739C>T (p.Arg247Cys) rs756570535 0.00005
NM_004924.6(ACTN4):c.1840G>A (p.Val614Ile) rs564122319 0.00005
NM_004998.4(MYO1E):c.2470G>C (p.Val824Leu) rs376718983 0.00005
NM_022489.4(INF2):c.1485G>A (p.Pro495=) rs780642540 0.00005
NM_022489.4(INF2):c.1950-3C>A rs777132952 0.00005
NM_022489.4(INF2):c.2879-9G>A rs373139405 0.00005
NM_022489.4(INF2):c.638C>T (p.Ala213Val) rs746572452 0.00005
NM_000278.5(PAX2):c.584G>A (p.Arg195His) rs201880460 0.00004
NM_000278.5(PAX2):c.641A>G (p.Asn214Ser) rs148402788 0.00004
NM_004621.6(TRPC6):c.271C>T (p.Arg91Cys) rs200186406 0.00004
NM_004621.6(TRPC6):c.293A>T (p.Glu98Val) rs200369786 0.00004
NM_004621.6(TRPC6):c.375C>T (p.Asn125=) rs201643083 0.00004
NM_004924.6(ACTN4):c.1458C>T (p.Tyr486=) rs372458891 0.00004
NM_004924.6(ACTN4):c.1750C>T (p.Arg584Cys) rs376144793 0.00004
NM_004924.6(ACTN4):c.1806C>T (p.His602=) rs749089376 0.00004
NM_004924.6(ACTN4):c.2526G>A (p.Thr842=) rs375763862 0.00004
NM_004924.6(ACTN4):c.2671G>A (p.Ala891Thr) rs370231267 0.00004
NM_004924.6(ACTN4):c.932G>A (p.Arg311His) rs559700598 0.00004
NM_004998.4(MYO1E):c.1275+12C>G rs373603961 0.00004
NM_004998.4(MYO1E):c.3060C>T (p.Val1020=) rs140388346 0.00004
NM_004998.4(MYO1E):c.487C>T (p.Arg163Trp) rs763194287 0.00004
NM_004998.4(MYO1E):c.839C>T (p.Ala280Val) rs375751619 0.00004
NM_018685.5(ANLN):c.1127G>A (p.Arg376His) rs368703385 0.00004
NM_018685.5(ANLN):c.1171C>T (p.Arg391Cys) rs562511350 0.00004
NM_022489.4(INF2):c.1183G>A (p.Glu395Lys) rs374769850 0.00004
NM_022489.4(INF2):c.1293T>C (p.Pro431=) rs758725838 0.00004
NM_022489.4(INF2):c.1725C>T (p.Asn575=) rs368235032 0.00004
NM_022489.4(INF2):c.2084G>A (p.Arg695Gln) rs372333024 0.00004
NM_022489.4(INF2):c.2101G>A (p.Ala701Thr) rs772557416 0.00004
NM_022489.4(INF2):c.2184C>T (p.Ala728=) rs564499884 0.00004
NM_022489.4(INF2):c.2240-5T>C rs765264633 0.00004
NM_022489.4(INF2):c.2418+3G>A rs748896420 0.00004
NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp) rs780428043 0.00004
NM_022489.4(INF2):c.3461A>T (p.Asp1154Val) rs753263522 0.00004
NM_022489.4(INF2):c.3727A>G (p.Lys1243Glu) rs1026924897 0.00004
NM_022489.4(INF2):c.510G>A (p.Thr170=) rs750711173 0.00004
NM_000278.5(PAX2):c.954C>T (p.Tyr318=) rs78122364 0.00003
NM_004621.6(TRPC6):c.2296C>G (p.Leu766Val) rs201466403 0.00003
NM_004924.6(ACTN4):c.1276G>A (p.Glu426Lys) rs752949932 0.00003
NM_004924.6(ACTN4):c.240C>T (p.Asp80=) rs1179808544 0.00003
NM_004924.6(ACTN4):c.2410G>A (p.Asp804Asn) rs750429771 0.00003
NM_004924.6(ACTN4):c.2508G>A (p.Ser836=) rs749956565 0.00003
NM_004924.6(ACTN4):c.2616C>T (p.Pro872=) rs747925584 0.00003
NM_004998.4(MYO1E):c.1770C>T (p.Asn590=) rs149553440 0.00003
NM_004998.4(MYO1E):c.2698C>T (p.His900Tyr) rs775958627 0.00003
NM_004998.4(MYO1E):c.2812A>G (p.Asn938Asp) rs149359240 0.00003
NM_022489.4(INF2):c.1949+3G>A rs747818846 0.00003
NM_022489.4(INF2):c.2155G>A (p.Glu719Lys) rs775500020 0.00003
NM_022489.4(INF2):c.2418+19G>A rs770701500 0.00003
NM_022489.4(INF2):c.2555G>A (p.Arg852Gln) rs372129830 0.00003
NM_022489.4(INF2):c.279C>T (p.Ser93=) rs199769315 0.00003
NM_022489.4(INF2):c.2804C>T (p.Ala935Val) rs781494318 0.00003
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg) rs747569209 0.00003
NM_004621.6(TRPC6):c.1079G>A (p.Arg360His) rs777715086 0.00002
NM_004621.6(TRPC6):c.1294-4G>A rs190191809 0.00002
NM_004621.6(TRPC6):c.2074G>A (p.Val692Ile) rs202219188 0.00002
NM_004998.4(MYO1E):c.2193G>T (p.Glu731Asp) rs375940461 0.00002
NM_004998.4(MYO1E):c.2334+5G>A rs374917616 0.00002
NM_004998.4(MYO1E):c.2399A>T (p.Lys800Ile) rs376817753 0.00002
NM_004998.4(MYO1E):c.433A>G (p.Ile145Val) rs749937776 0.00002
NM_022489.4(INF2):c.1208A>G (p.Glu403Gly) rs1356183663 0.00002
NM_022489.4(INF2):c.1811G>A (p.Arg604Gln) rs752971046 0.00002
NM_022489.4(INF2):c.1965C>T (p.Val655=) rs752090814 0.00002
NM_022489.4(INF2):c.1979G>A (p.Arg660Gln) rs756754311 0.00002
NM_022489.4(INF2):c.2498T>C (p.Leu833Pro) rs575569437 0.00002
NM_022489.4(INF2):c.255G>T (p.Ser85=) rs369037445 0.00002
NM_022489.4(INF2):c.2572G>A (p.Val858Met) rs201292830 0.00002
NM_022489.4(INF2):c.2802G>A (p.Ala934=) rs768008674 0.00002
NM_022489.4(INF2):c.2891C>G (p.Pro964Arg) rs748286029 0.00002
NM_022489.4(INF2):c.2898G>T (p.Lys966Asn) rs201180682 0.00002
NM_022489.4(INF2):c.372C>T (p.Tyr124=) rs368077298 0.00002
NM_000278.5(PAX2):c.1021+137C>T rs1848496928 0.00001
NM_000278.5(PAX2):c.320C>T (p.Pro107Leu) rs774231216 0.00001
NM_000278.5(PAX2):c.450G>A (p.Thr150=) rs1386529275 0.00001
NM_000278.5(PAX2):c.452C>A (p.Pro151Gln) rs199919058 0.00001
NM_000278.5(PAX2):c.477C>T (p.Thr159=) rs201775091 0.00001
NM_000278.5(PAX2):c.616+5648T>C rs747453876 0.00001
NM_000278.5(PAX2):c.735T>C (p.Phe245=) rs746316295 0.00001
NM_000278.5(PAX2):c.740G>A (p.Arg247His) rs747639879 0.00001
NM_000278.5(PAX2):c.757G>A (p.Val253Ile) rs770703982 0.00001
NM_000278.5(PAX2):c.845C>T (p.Ser282Leu) rs757989097 0.00001
NM_004621.6(TRPC6):c.524G>A (p.Arg175Gln) rs1451194842 0.00001
NM_004621.6(TRPC6):c.996C>T (p.Leu332=) rs200144852 0.00001
NM_004924.6(ACTN4):c.1680C>T (p.Ile560=) rs200269395 0.00001
NM_004924.6(ACTN4):c.2011-4G>A rs377158228 0.00001
NM_004924.6(ACTN4):c.497A>G (p.Lys166Arg) rs754477143 0.00001
NM_004924.6(ACTN4):c.763A>G (p.Lys255Glu) rs121908415 0.00001
NM_004998.4(MYO1E):c.1654G>A (p.Ala552Thr) rs746688811 0.00001
NM_004998.4(MYO1E):c.2050-3C>T rs776916643 0.00001
NM_004998.4(MYO1E):c.20A>G (p.Tyr7Cys) rs765316403 0.00001
NM_004998.4(MYO1E):c.2179T>C (p.Leu727=) rs774695459 0.00001
NM_004998.4(MYO1E):c.3118G>C (p.Gly1040Arg) rs372582214 0.00001
NM_004998.4(MYO1E):c.44A>G (p.Asn15Ser) rs542281660 0.00001
NM_004998.4(MYO1E):c.701A>G (p.Tyr234Cys) rs753956205 0.00001
NM_004998.4(MYO1E):c.818C>T (p.Thr273Met) rs766788690 0.00001
NM_018685.5(ANLN):c.2440A>G (p.Lys814Glu) rs778238903 0.00001
NM_022489.4(INF2):c.1067C>T (p.Ala356Val) rs375622503 0.00001
NM_022489.4(INF2):c.1115C>T (p.Ser372Phe) rs770882784 0.00001
NM_022489.4(INF2):c.1189G>A (p.Val397Met) rs771775245 0.00001
NM_022489.4(INF2):c.1299C>T (p.Ser433=) rs1431857911 0.00001
NM_022489.4(INF2):c.1447T>G (p.Ser483Ala) rs1218562289 0.00001
NM_022489.4(INF2):c.1503C>T (p.Pro501=) rs1057520913 0.00001
NM_022489.4(INF2):c.1792G>A (p.Asp598Asn) rs368948089 0.00001
NM_022489.4(INF2):c.1994C>T (p.Thr665Ile) rs1279137766 0.00001
NM_022489.4(INF2):c.2103C>T (p.Ala701=) rs369998116 0.00001
NM_022489.4(INF2):c.2553G>A (p.Glu851=) rs368901958 0.00001
NM_022489.4(INF2):c.2775+12C>T rs200236783 0.00001
NM_022489.4(INF2):c.2843A>C (p.Glu948Ala) rs1473555311 0.00001
NM_022489.4(INF2):c.2863G>C (p.Glu955Gln) rs1440140886 0.00001
NM_022489.4(INF2):c.2869G>A (p.Gly957Arg) rs984879135 0.00001
NM_022489.4(INF2):c.3054C>T (p.Asn1018=) rs983208436 0.00001
NM_022489.4(INF2):c.3115A>G (p.Thr1039Ala) rs1316234873 0.00001
NM_022489.4(INF2):c.3126C>T (p.Ser1042=) rs1035033414 0.00001
NM_022489.4(INF2):c.3237T>C (p.Tyr1079=) rs771664996 0.00001
NM_022489.4(INF2):c.3373G>A (p.Gly1125Arg) rs775116734 0.00001
NM_022489.4(INF2):c.3418G>A (p.Val1140Ile) rs199640596 0.00001
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala) rs778879482 0.00001
NM_022489.4(INF2):c.3625A>G (p.Arg1209Gly) rs989477091 0.00001
NM_022489.4(INF2):c.3637C>T (p.Arg1213Trp) rs200823300 0.00001
NM_022489.4(INF2):c.409G>A (p.Val137Met) rs200713451 0.00001
NM_022489.4(INF2):c.489C>T (p.Asp163=) rs769080446 0.00001
NM_022489.4(INF2):c.509C>T (p.Thr170Met) rs767698763 0.00001
NM_022489.4(INF2):c.579C>T (p.Tyr193=) rs986330062 0.00001
NM_022489.4(INF2):c.624C>T (p.Pro208=) rs750610272 0.00001
NM_022489.4(INF2):c.641G>A (p.Arg214His) rs267606879 0.00001
NM_022489.4(INF2):c.654G>T (p.Arg218=) rs745354738 0.00001
NM_022489.4(INF2):c.667G>A (p.Gly223Arg) rs1209201341 0.00001
NM_022489.4(INF2):c.717C>T (p.Ala239=) rs750808868 0.00001
NM_022489.4(INF2):c.765C>T (p.Asp255=) rs758423191 0.00001
NM_022489.4(INF2):c.799G>A (p.Asp267Asn) rs772599038 0.00001
NM_022489.4(INF2):c.839A>G (p.His280Arg) rs759115381 0.00001
NM_022489.4(INF2):c.986-9C>G rs761206810 0.00001
GRCh37/hg19 10q24.31(chr10:102568846-102589718)
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup) rs387906530
NM_000278.5(PAX2):c.239C>T (p.Pro80Leu) rs1554856032
NM_000278.5(PAX2):c.240G>A (p.Pro80=) rs576772135
NM_000278.5(PAX2):c.250G>A (p.Gly84Ser) rs2133836340
NM_000278.5(PAX2):c.343C>T (p.Arg115Ter) rs1845412705
NM_000278.5(PAX2):c.418C>T (p.Arg140Trp) rs1217241110
NM_000278.5(PAX2):c.483del (p.Gly162fs) rs2133894273
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter) rs76492282
NM_000278.5(PAX2):c.76del (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.791del (p.Gln264fs) rs2133950639
NM_004621.6(TRPC6):c.1212G>A (p.Ala404=) rs144085223
NM_004621.6(TRPC6):c.2142G>A (p.Thr714=) rs145077205
NM_004621.6(TRPC6):c.218G>T (p.Arg73Leu) rs371919016
NM_004621.6(TRPC6):c.2486T>A (p.Val829Asp) rs1858853619
NM_004621.6(TRPC6):c.2645-22_2645-20del rs59743346
NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys) rs121434394
NM_004621.6(TRPC6):c.2684G>T (p.Arg895Leu) rs1591517912
NM_004621.6(TRPC6):c.336A>C (p.Pro112=) rs201818043
NM_004998.4(MYO1E):c.1618C>A (p.Pro540Thr) rs372880204
NM_004998.4(MYO1E):c.2334+10_2334+11delinsGC rs2140317179
NM_004998.4(MYO1E):c.2450A>C (p.Glu817Ala) rs757642502
NM_004998.4(MYO1E):c.2878+18C>T rs759274124
NM_004998.4(MYO1E):c.979C>T (p.Gln327Ter) rs1427276872
NM_022489.4(INF2):c.1126A>T (p.Thr376Ser) rs376942822
NM_022489.4(INF2):c.1226C>T (p.Ser409Leu) rs1486781241
NM_022489.4(INF2):c.1262CACCCC[1] (p.Pro423_Pro428del) rs573567814
NM_022489.4(INF2):c.1262CACCCC[5] (p.Pro427_Pro428dup) rs573567814
NM_022489.4(INF2):c.1280C>T (p.Pro427Leu) rs1889838927
NM_022489.4(INF2):c.1308G>T (p.Glu436Asp) rs1566781633
NM_022489.4(INF2):c.1310C>T (p.Pro437Leu) rs746697423
NM_022489.4(INF2):c.1376_1387del (p.Pro459_Pro462del) rs1443005224
NM_022489.4(INF2):c.1421CTC[1] (p.Pro475del) rs1325744353
NM_022489.4(INF2):c.1466C>T (p.Pro489Leu) rs1438965620
NM_022489.4(INF2):c.1493G>T (p.Gly498Val) rs2140669360
NM_022489.4(INF2):c.1571G>C (p.Cys524Ser) rs2140669651
NM_022489.4(INF2):c.1582C>G (p.Pro528Ala) rs181694819
NM_022489.4(INF2):c.1735+1G>A rs2140670271
NM_022489.4(INF2):c.1950-10C>A rs199987321
NM_022489.4(INF2):c.1950-20C>T rs370726873
NM_022489.4(INF2):c.2100C>A (p.Ser700Arg) rs377281840
NM_022489.4(INF2):c.217G>A (p.Gly73Ser) rs1566777560
NM_022489.4(INF2):c.2310+12del rs752651194
NM_022489.4(INF2):c.2625C>G (p.Ala875=) rs377398103
NM_022489.4(INF2):c.2726C>A (p.Thr909Lys) rs201336550
NM_022489.4(INF2):c.2749C>T (p.Arg917Trp) rs778308700
NM_022489.4(INF2):c.2788C>G (p.Arg930Gly) rs764687744
NM_022489.4(INF2):c.2846C>T (p.Ala949Val) rs912951002
NM_022489.4(INF2):c.3122C>G (p.Ala1041Gly) rs770095888
NM_022489.4(INF2):c.3207A>C (p.Pro1069=) rs1128840
NM_022489.4(INF2):c.3207A>G (p.Pro1069=) rs1128840
NM_022489.4(INF2):c.3257T>C (p.Leu1086Pro) rs368869709
NM_022489.4(INF2):c.3342C>G (p.Leu1114=) rs777623201
NM_022489.4(INF2):c.3519C>G (p.Asp1173Glu) rs767075044
NM_022489.4(INF2):c.3614G>A (p.Gly1205Asp) rs956685612
NM_022489.4(INF2):c.3643_3653del (p.Ser1215fs) rs762985148
NM_022489.4(INF2):c.3694+12_3694+15del rs766461452
NM_022489.4(INF2):c.3729_3732del (p.Lys1243fs) rs1566787039
NM_022489.4(INF2):c.392-13_392-9dup rs775575983
NM_022489.4(INF2):c.494T>C (p.Leu165Pro) rs1595165937
NM_022489.4(INF2):c.550G>A (p.Glu184Lys) rs1566778676
NM_022489.4(INF2):c.652C>T (p.Arg218Trp) rs267606878
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_022489.4(INF2):c.685G>A (p.Val229Ile) rs752058170
NM_022489.4(INF2):c.760G>A (p.Glu254Lys) rs1595169407
NM_022489.4(INF2):c.994T>G (p.Cys332Gly) rs1399811407
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) rs879255251
NM_173689.7(CRB2):c.315C>A (p.Cys105Ter) rs149815227
NM_173689.7(CRB2):c.952G>A (p.Gly318Ser) rs759937525

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.