ClinVar Miner

List of variants in gene TRPC6 studied for focal segmental glomerulosclerosis 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 249
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HGVS dbSNP gnomAD frequency
NM_004621.6(TRPC6):c.171-20A>G rs10501986 0.46624
NM_004621.6(TRPC6):c.*553T>G rs7931399 0.32661
NM_004621.6(TRPC6):c.1683T>C (p.Asn561=) rs12366144 0.31538
NM_004621.6(TRPC6):c.-361A>T rs41302375 0.23298
NM_004621.6(TRPC6):c.-218C>T rs56134796 0.20345
NM_004621.6(TRPC6):c.2529C>T (p.Phe843=) rs72984209 0.15473
NM_004621.6(TRPC6):c.2712G>A (p.Gln904=) rs12805398 0.08831
NM_004621.6(TRPC6):c.-254C>G rs3824934 0.08690
NM_004621.6(TRPC6):c.1211C>T (p.Ala404Val) rs36111323 0.08144
NM_004621.6(TRPC6):c.43C>T (p.Pro15Ser) rs3802829 0.07029
NM_004621.6(TRPC6):c.2115C>T (p.Tyr705=) rs61743044 0.04384
NM_004621.6(TRPC6):c.-10C>A rs191383391 0.01276
NM_004621.6(TRPC6):c.*530T>C rs112916171 0.00885
NM_004621.6(TRPC6):c.2088C>T (p.Asn696=) rs61739601 0.00801
NM_004621.6(TRPC6):c.*970A>G rs146033736 0.00635
NM_004621.6(TRPC6):c.1338C>T (p.His446=) rs112258968 0.00391
NM_004621.6(TRPC6):c.1818T>C (p.Ser606=) rs139187399 0.00222
NM_004621.6(TRPC6):c.*9C>T rs187970274 0.00190
NM_004621.6(TRPC6):c.*1038T>G rs142655335 0.00123
NM_004621.6(TRPC6):c.*218C>T rs190606820 0.00103
NM_004621.6(TRPC6):c.*314C>G rs199583740 0.00083
NM_004621.6(TRPC6):c.*40T>G rs201285907 0.00082
NM_004621.6(TRPC6):c.172C>T (p.Arg58Trp) rs117273916 0.00082
NM_004621.6(TRPC6):c.*575C>A rs200705719 0.00044
NM_004621.6(TRPC6):c.*175A>C rs199878670 0.00038
NM_004621.6(TRPC6):c.*668G>A rs200307747 0.00038
NM_004621.6(TRPC6):c.948T>C (p.Asn316=) rs139477687 0.00035
NM_004621.6(TRPC6):c.-243C>T rs199601311 0.00029
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_004621.6(TRPC6):c.-125C>T rs201034657 0.00025
NM_004621.6(TRPC6):c.218G>A (p.Arg73His) rs371919016 0.00022
NM_004621.6(TRPC6):c.2392G>C (p.Asp798His) rs201522744 0.00022
NM_004621.6(TRPC6):c.374A>G (p.Asn125Ser) rs146776939 0.00022
NM_004621.6(TRPC6):c.75C>T (p.Arg25=) rs201051533 0.00019
NM_004621.6(TRPC6):c.*792G>A rs201986308 0.00018
NM_004621.6(TRPC6):c.428A>G (p.Asn143Ser) rs121434391 0.00018
NM_004621.6(TRPC6):c.-143C>T rs886047539 0.00015
NM_004621.6(TRPC6):c.2770C>T (p.Pro924Ser) rs139330011 0.00011
NM_004621.6(TRPC6):c.213T>A (p.Val71=) rs138123801 0.00010
NM_004621.6(TRPC6):c.667A>G (p.Ile223Val) rs150033580 0.00010
NM_004621.6(TRPC6):c.*1380G>A rs747229991 0.00009
NM_004621.6(TRPC6):c.5G>C (p.Ser2Thr) rs886039885 0.00009
NM_004621.6(TRPC6):c.2711A>G (p.Gln904Arg) rs148529934 0.00008
NM_004621.6(TRPC6):c.1899C>T (p.Asp633=) rs187196477 0.00007
NM_004621.6(TRPC6):c.*337G>A rs144714163 0.00006
NM_004621.6(TRPC6):c.1678G>A (p.Ala560Thr) rs199892792 0.00006
NM_004621.6(TRPC6):c.2299G>A (p.Val767Met) rs200772226 0.00006
NM_004621.6(TRPC6):c.1612G>A (p.Ala538Thr) rs753943966 0.00005
NM_004621.6(TRPC6):c.*13C>T rs200791047 0.00004
NM_004621.6(TRPC6):c.-205C>T rs533735159 0.00004
NM_004621.6(TRPC6):c.-343C>G rs200074836 0.00004
NM_004621.6(TRPC6):c.1677C>T (p.Asp559=) rs552837414 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_004621.6(TRPC6):c.*1386C>G rs375701506 0.00003
NM_004621.6(TRPC6):c.1309C>T (p.Arg437Cys) rs145580926 0.00003
NM_004621.6(TRPC6):c.2296C>G (p.Leu766Val) rs201466403 0.00003
NM_004621.6(TRPC6):c.2508T>C (p.Ser836=) rs377172208 0.00003
NM_004621.6(TRPC6):c.304T>A (p.Phe102Ile) rs201363468 0.00003
NM_004621.6(TRPC6):c.673C>G (p.Leu225Val) rs201368333 0.00003
NM_004621.6(TRPC6):c.1057C>T (p.Leu353Phe) rs775521973 0.00002
NM_004621.6(TRPC6):c.1065T>G (p.Ser355Arg) rs1036112313 0.00002
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_004621.6(TRPC6):c.2574A>C (p.Ile858=) rs751323115 0.00002
NM_004621.6(TRPC6):c.*1020G>A rs201292926 0.00001
NM_004621.6(TRPC6):c.*336C>T rs199619303 0.00001
NM_004621.6(TRPC6):c.*3C>T rs199566055 0.00001
NM_004621.6(TRPC6):c.-276G>A rs1015092035 0.00001
NM_004621.6(TRPC6):c.-35G>A rs886047538 0.00001
NM_004621.6(TRPC6):c.-406C>A rs886047542 0.00001
NM_004621.6(TRPC6):c.1780A>G (p.Ile594Val) rs758348046 0.00001
NM_004621.6(TRPC6):c.1801A>G (p.Ile601Val) rs1174005732 0.00001
NM_004621.6(TRPC6):c.18G>A (p.Ala6=) rs891868712 0.00001
NM_004621.6(TRPC6):c.1928T>C (p.Met643Thr) rs773581652 0.00001
NM_004621.6(TRPC6):c.2009+1G>A rs199611561 0.00001
NM_004621.6(TRPC6):c.2410-11A>G rs886047537 0.00001
NM_004621.6(TRPC6):c.2732A>G (p.Glu911Gly) rs745717503 0.00001
NM_004621.6(TRPC6):c.364C>T (p.His122Tyr) rs774329493 0.00001
NM_004621.6(TRPC6):c.524G>A (p.Arg175Gln) rs1451194842 0.00001
NM_004621.6(TRPC6):c.642A>G (p.Thr214=) rs369124216 0.00001
NM_004621.6(TRPC6):c.643C>T (p.Arg215Trp) rs768210838 0.00001
NM_004621.6(TRPC6):c.769G>A (p.Asp257Asn) rs1565221149 0.00001
NM_004621.6(TRPC6):c.996C>T (p.Leu332=) rs200144852 0.00001
NM_004621.6(TRPC6):c.*1032A>G rs1858771912
NM_004621.6(TRPC6):c.*1089C>T rs117895343
NM_004621.6(TRPC6):c.*1147A>G rs1858769601
NM_004621.6(TRPC6):c.*1176T>C rs886047535
NM_004621.6(TRPC6):c.*1349T>C rs180930016
NM_004621.6(TRPC6):c.*147T>C rs868215324
NM_004621.6(TRPC6):c.*293G>C rs1858789155
NM_004621.6(TRPC6):c.*507T>A rs202210629
NM_004621.6(TRPC6):c.*820C>T rs1858777078
NM_004621.6(TRPC6):c.*821C>T rs886047536
NM_004621.6(TRPC6):c.*960G>C rs138558920
NM_004621.6(TRPC6):c.-244T>C rs200535998
NM_004621.6(TRPC6):c.-264C>G rs1199336137
NM_004621.6(TRPC6):c.-317C>G rs886047540
NM_004621.6(TRPC6):c.-344C>G rs867713895
NM_004621.6(TRPC6):c.-352C>G rs201260623
NM_004621.6(TRPC6):c.-360T>C rs192759166
NM_004621.6(TRPC6):c.-424G>T rs17096920
NM_004621.6(TRPC6):c.1018G>A (p.Glu340Lys)
NM_004621.6(TRPC6):c.101T>C (p.Met34Thr) rs758531773
NM_004621.6(TRPC6):c.1031C>A (p.Ala344Asp)
NM_004621.6(TRPC6):c.103G>A (p.Asp35Asn)
NM_004621.6(TRPC6):c.1069G>A (p.Asp357Asn)
NM_004621.6(TRPC6):c.1090dup (p.Ser364fs)
NM_004621.6(TRPC6):c.1094G>A (p.Arg365His)
NM_004621.6(TRPC6):c.1128+15del
NM_004621.6(TRPC6):c.1128+17A>G
NM_004621.6(TRPC6):c.114G>A (p.Leu38=) rs374371372
NM_004621.6(TRPC6):c.1190G>A (p.Gly397Asp)
NM_004621.6(TRPC6):c.1195C>T (p.Arg399Ter)
NM_004621.6(TRPC6):c.1209G>A (p.Met403Ile)
NM_004621.6(TRPC6):c.1212G>A (p.Ala404=) rs144085223
NM_004621.6(TRPC6):c.128G>T (p.Cys43Phe) rs2136909652
NM_004621.6(TRPC6):c.129C>A (p.Cys43Ter)
NM_004621.6(TRPC6):c.1310G>A (p.Arg437His)
NM_004621.6(TRPC6):c.131_146del (p.Pro44fs)
NM_004621.6(TRPC6):c.1344C>A (p.Ala448=) rs554849365
NM_004621.6(TRPC6):c.134A>G (p.Gln45Arg)
NM_004621.6(TRPC6):c.1354A>G (p.Ile452Val)
NM_004621.6(TRPC6):c.1394T>C (p.Phe465Ser) rs2136690942
NM_004621.6(TRPC6):c.1410_1412del (p.Leu471del)
NM_004621.6(TRPC6):c.1486A>T (p.Met496Leu)
NM_004621.6(TRPC6):c.1504G>A (p.Val502Ile)
NM_004621.6(TRPC6):c.1511-3C>G
NM_004621.6(TRPC6):c.1513A>G (p.Met505Val) rs1859421755
NM_004621.6(TRPC6):c.1528T>G (p.Cys510Gly)
NM_004621.6(TRPC6):c.1540del (p.Trp514fs)
NM_004621.6(TRPC6):c.154G>T (p.Gly52Cys)
NM_004621.6(TRPC6):c.155G>A (p.Gly52Asp)
NM_004621.6(TRPC6):c.1572G>T (p.Glu524Asp)
NM_004621.6(TRPC6):c.1584G>A (p.Met528Ile)
NM_004621.6(TRPC6):c.1595G>C (p.Gly532Ala)
NM_004621.6(TRPC6):c.1601T>C (p.Leu534Ser)
NM_004621.6(TRPC6):c.1606A>G (p.Ile536Val)
NM_004621.6(TRPC6):c.1628C>T (p.Ala543Val)
NM_004621.6(TRPC6):c.163C>A (p.Pro55Thr)
NM_004621.6(TRPC6):c.1669A>G (p.Ile557Val)
NM_004621.6(TRPC6):c.1679C>T (p.Ala560Val)
NM_004621.6(TRPC6):c.170+5G>C
NM_004621.6(TRPC6):c.1745-9T>G
NM_004621.6(TRPC6):c.1747A>G (p.Arg583Gly) rs200107149
NM_004621.6(TRPC6):c.1750A>T (p.Ile584Leu)
NM_004621.6(TRPC6):c.1753_1754del (p.Lys585fs)
NM_004621.6(TRPC6):c.179C>G (p.Ser60Cys)
NM_004621.6(TRPC6):c.1886G>C (p.Arg629Thr) rs775034304
NM_004621.6(TRPC6):c.1886_1887insC (p.Arg629fs) rs780501413
NM_004621.6(TRPC6):c.1891_1894del (p.Val631fs)
NM_004621.6(TRPC6):c.1897G>C (p.Asp633His)
NM_004621.6(TRPC6):c.1938G>A (p.Val646=)
NM_004621.6(TRPC6):c.1976A>G (p.Tyr659Cys)
NM_004621.6(TRPC6):c.199C>T (p.Arg67Trp)
NM_004621.6(TRPC6):c.2037C>G (p.Phe679Leu)
NM_004621.6(TRPC6):c.2079C>G (p.Ile693Met)
NM_004621.6(TRPC6):c.2081A>G (p.Asn694Ser)
NM_004621.6(TRPC6):c.2091C>A (p.His697Gln)
NM_004621.6(TRPC6):c.2093A>G (p.Lys698Arg)
NM_004621.6(TRPC6):c.2097C>G (p.Phe699Leu)
NM_004621.6(TRPC6):c.20T>C (p.Phe7Ser)
NM_004621.6(TRPC6):c.2116G>A (p.Val706Ile)
NM_004621.6(TRPC6):c.2142G>A (p.Thr714=) rs145077205
NM_004621.6(TRPC6):c.2142G>T (p.Thr714=) rs145077205
NM_004621.6(TRPC6):c.218G>T (p.Arg73Leu) rs371919016
NM_004621.6(TRPC6):c.2205+9T>G rs190441617
NM_004621.6(TRPC6):c.2231T>C (p.Phe744Ser)
NM_004621.6(TRPC6):c.2239G>T (p.Ala747Ser)
NM_004621.6(TRPC6):c.2256C>T (p.Ser752=)
NM_004621.6(TRPC6):c.22G>C (p.Gly8Arg)
NM_004621.6(TRPC6):c.2304G>T (p.Pro768=) rs201608841
NM_004621.6(TRPC6):c.2339T>C (p.Leu780Pro)
NM_004621.6(TRPC6):c.2398G>A (p.Glu800Lys)
NM_004621.6(TRPC6):c.2408A>G (p.Lys803Arg)
NM_004621.6(TRPC6):c.2409+19T>G
NM_004621.6(TRPC6):c.2410-2A>C
NM_004621.6(TRPC6):c.2415_2418del (p.Asn805fs)
NM_004621.6(TRPC6):c.2441G>A (p.Gly814Glu) rs138519687
NM_004621.6(TRPC6):c.2458T>C (p.Ser820Pro)
NM_004621.6(TRPC6):c.2463A>T (p.Lys821Asn) rs199948731
NM_004621.6(TRPC6):c.2486T>A (p.Val829Asp) rs1858853619
NM_004621.6(TRPC6):c.2488G>A (p.Gly830Arg)
NM_004621.6(TRPC6):c.2544C>A (p.Phe848Leu)
NM_004621.6(TRPC6):c.2578_2581dup (p.Arg861fs)
NM_004621.6(TRPC6):c.2592_2595dup (p.Tyr866fs)
NM_004621.6(TRPC6):c.259A>G (p.Met87Val)
NM_004621.6(TRPC6):c.2603_2611dup (p.Ala870_Gln871insLeuGlnAla)
NM_004621.6(TRPC6):c.2619_2626del (p.Asp873fs)
NM_004621.6(TRPC6):c.2620A>T (p.Lys874Ter) rs121434393
NM_004621.6(TRPC6):c.2641G>T (p.Glu881Ter) rs1858816107
NM_004621.6(TRPC6):c.2643dup (p.Gly882fs) rs1858816064
NM_004621.6(TRPC6):c.2645-22_2645-20del rs59743346
NM_004621.6(TRPC6):c.2665C>A (p.Gln889Lys)
NM_004621.6(TRPC6):c.2665del (p.Gln889fs)
NM_004621.6(TRPC6):c.266G>T (p.Ser89Ile) rs1565221699
NM_004621.6(TRPC6):c.2672T>C (p.Ile891Thr)
NM_004621.6(TRPC6):c.2678G>T (p.Ser893Ile) rs1591517921
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.2689G>A (p.Glu897Lys) rs121434395
NM_004621.6(TRPC6):c.2692C>G (p.Leu898Val)
NM_004621.6(TRPC6):c.2694_2696del (p.Leu899del) rs2136635187
NM_004621.6(TRPC6):c.272G>T (p.Arg91Leu) rs770014593
NM_004621.6(TRPC6):c.2738T>C (p.Ile913Thr)
NM_004621.6(TRPC6):c.273C>T (p.Arg91=)
NM_004621.6(TRPC6):c.2794T>A (p.Ter932Lys) rs1858797162
NM_004621.6(TRPC6):c.289A>G (p.Ile97Val)
NM_004621.6(TRPC6):c.293A>C (p.Glu98Ala)
NM_004621.6(TRPC6):c.301C>T (p.Arg101Cys)
NM_004621.6(TRPC6):c.304T>C (p.Phe102Leu)
NM_004621.6(TRPC6):c.317dup (p.Ala106_Glu107insTer)
NM_004621.6(TRPC6):c.32G>C (p.Arg11Thr)
NM_004621.6(TRPC6):c.335C>A (p.Pro112Gln) rs121434390
NM_004621.6(TRPC6):c.336A>C (p.Pro112=) rs201818043
NM_004621.6(TRPC6):c.351G>A (p.Met117Ile)
NM_004621.6(TRPC6):c.368C>G (p.Ser123Ter)
NM_004621.6(TRPC6):c.376G>A (p.Val126Ile)
NM_004621.6(TRPC6):c.430G>C (p.Glu144Gln)
NM_004621.6(TRPC6):c.434A>G (p.His145Arg) rs1565221486
NM_004621.6(TRPC6):c.43C>G (p.Pro15Ala)
NM_004621.6(TRPC6):c.446C>A (p.Thr149Lys)
NM_004621.6(TRPC6):c.452_453inv (p.Leu151Gln)
NM_004621.6(TRPC6):c.470A>T (p.Asn157Ile)
NM_004621.6(TRPC6):c.478C>T (p.Arg160Ter)
NM_004621.6(TRPC6):c.47G>C (p.Arg16Pro)
NM_004621.6(TRPC6):c.50G>A (p.Gly17Asp)
NM_004621.6(TRPC6):c.518A>G (p.Tyr173Cys) rs1555003819
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp) rs869025541
NM_004621.6(TRPC6):c.532G>T (p.Glu178Ter)
NM_004621.6(TRPC6):c.566G>T (p.Gly189Val)
NM_004621.6(TRPC6):c.58G>A (p.Gly20Arg)
NM_004621.6(TRPC6):c.600A>T (p.Glu200Asp)
NM_004621.6(TRPC6):c.643C>G (p.Arg215Gly) rs768210838
NM_004621.6(TRPC6):c.644G>A (p.Arg215Gln) rs1860201767
NM_004621.6(TRPC6):c.653A>T (p.His218Leu)
NM_004621.6(TRPC6):c.719G>A (p.Arg240Gln)
NM_004621.6(TRPC6):c.758G>A (p.Cys253Tyr)
NM_004621.6(TRPC6):c.808T>A (p.Ser270Thr) rs121434392
NM_004621.6(TRPC6):c.847C>T (p.Pro283Ser)
NM_004621.6(TRPC6):c.869G>A (p.Ser290Asn)
NM_004621.6(TRPC6):c.905A>G (p.Asn302Ser)
NM_004621.6(TRPC6):c.923C>A (p.Ala308Asp)
NM_004621.6(TRPC6):c.946-1G>C
NM_004621.6(TRPC6):c.952T>C (p.Tyr318His)
NM_004621.6(TRPC6):c.991G>A (p.Gly331Arg)

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