ClinVar Miner

List of variants in gene combination CARD14, SGSH reported as uncertain significance by Invitae

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Total variants: 154
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HGVS dbSNP gnomAD frequency
NM_001366385.1(CARD14):c.2209A>C (p.Asn737His) rs535171797 0.00030
NM_001366385.1(CARD14):c.2210A>G (p.Asn737Ser) rs138579421 0.00028
NM_001366385.1(CARD14):c.2884C>T (p.Arg962Trp) rs768891477 0.00025
NM_001366385.1(CARD14):c.2956C>T (p.Arg986Cys) rs112478200 0.00025
NM_001366385.1(CARD14):c.1901C>T (p.Thr634Met) rs141847758 0.00020
NM_001366385.1(CARD14):c.2320G>A (p.Val774Ile) rs138833596 0.00020
NM_001366385.1(CARD14):c.2773G>A (p.Val925Ile) rs372586928 0.00019
NM_001366385.1(CARD14):c.2354G>A (p.Arg785His) rs575328953 0.00013
NM_001366385.1(CARD14):c.2279G>A (p.Arg760His) rs143600438 0.00010
NM_001366385.1(CARD14):c.2836G>C (p.Glu946Gln) rs752281368 0.00009
NM_001366385.1(CARD14):c.2968G>A (p.Ala990Thr) rs575494155 0.00009
NM_001366385.1(CARD14):c.3006C>A (p.Ser1002Arg) rs984646773 0.00009
NM_001366385.1(CARD14):c.2315G>A (p.Arg772His) rs746635931 0.00008
NM_001366385.1(CARD14):c.2038T>C (p.Tyr680His) rs760618098 0.00007
NM_001366385.1(CARD14):c.2871G>C (p.Glu957Asp) rs373510767 0.00006
NM_001366385.1(CARD14):c.2192C>T (p.Ala731Val) rs147578051 0.00005
NM_001366385.1(CARD14):c.2158C>T (p.Arg720Cys) rs772710307 0.00004
NM_001366385.1(CARD14):c.2713G>A (p.Val905Ile) rs375006162 0.00004
NM_001366385.1(CARD14):c.2735C>G (p.Thr912Ser) rs201965466 0.00004
NM_001366385.1(CARD14):c.3011G>A (p.Arg1004Gln) rs370758101 0.00004
NM_001366385.1(CARD14):c.2101G>A (p.Glu701Lys) rs984278499 0.00003
NM_001366385.1(CARD14):c.2113G>A (p.Val705Ile) rs148788573 0.00003
NM_001366385.1(CARD14):c.2159G>A (p.Arg720His) rs202094920 0.00003
NM_001366385.1(CARD14):c.2220-3C>T rs1261633223 0.00003
NM_001366385.1(CARD14):c.3010C>T (p.Arg1004Ter) rs781476504 0.00003
NM_001366385.1(CARD14):c.1918G>A (p.Val640Met) rs751439750 0.00002
NM_001366385.1(CARD14):c.1919T>C (p.Val640Ala) rs1045262635 0.00002
NM_001366385.1(CARD14):c.1945T>A (p.Phe649Ile) rs954284352 0.00002
NM_001366385.1(CARD14):c.1960G>C (p.Val654Leu) rs778539318 0.00002
NM_001366385.1(CARD14):c.2194C>T (p.His732Tyr) rs560027976 0.00002
NM_001366385.1(CARD14):c.2201C>T (p.Thr734Ile) rs371296759 0.00002
NM_001366385.1(CARD14):c.2278C>T (p.Arg760Cys) rs563350773 0.00002
NM_001366385.1(CARD14):c.2994G>A (p.Trp998Ter) rs758865360 0.00002
NM_001366385.1(CARD14):c.1861G>A (p.Glu621Lys) rs979100899 0.00001
NM_001366385.1(CARD14):c.1927C>T (p.Leu643Phe) rs767152556 0.00001
NM_001366385.1(CARD14):c.1939G>C (p.Asp647His) rs1225307467 0.00001
NM_001366385.1(CARD14):c.1942G>A (p.Gly648Ser) rs748993106 0.00001
NM_001366385.1(CARD14):c.1973C>T (p.Thr658Met) rs769208715 0.00001
NM_001366385.1(CARD14):c.2018C>T (p.Ala673Val) rs753197925 0.00001
NM_001366385.1(CARD14):c.2119G>A (p.Asp707Asn) rs757622443 0.00001
NM_001366385.1(CARD14):c.2161G>A (p.Val721Met) rs748083207 0.00001
NM_001366385.1(CARD14):c.2191G>A (p.Ala731Thr) rs537086902 0.00001
NM_001366385.1(CARD14):c.2204T>G (p.Ile735Ser) rs781185886 0.00001
NM_001366385.1(CARD14):c.2257A>G (p.Thr753Ala) rs528408567 0.00001
NM_001366385.1(CARD14):c.2314C>T (p.Arg772Cys) rs577478029 0.00001
NM_001366385.1(CARD14):c.2353C>T (p.Arg785Cys) rs146332779 0.00001
NM_001366385.1(CARD14):c.2388C>A (p.Ser796Arg) rs781104146 0.00001
NM_001366385.1(CARD14):c.2725A>G (p.Ser909Gly) rs748610851 0.00001
NM_001366385.1(CARD14):c.2742C>G (p.His914Gln) rs759807969 0.00001
NM_001366385.1(CARD14):c.2764G>A (p.Val922Ile) rs763985273 0.00001
NM_001366385.1(CARD14):c.2792T>A (p.Met931Lys) rs773835416 0.00001
NM_001366385.1(CARD14):c.2800A>C (p.Lys934Gln) rs2041361762 0.00001
NM_001366385.1(CARD14):c.2821C>T (p.Arg941Trp) rs1410862007 0.00001
NM_001366385.1(CARD14):c.2858C>T (p.Ala953Val) rs370106410 0.00001
NM_001366385.1(CARD14):c.2869G>A (p.Glu957Lys) rs1240011102 0.00001
NM_001366385.1(CARD14):c.2920G>A (p.Gly974Ser) rs767247623 0.00001
NM_001366385.1(CARD14):c.2938G>A (p.Gly980Ser) rs750872801 0.00001
NM_001366385.1(CARD14):c.2945T>A (p.Leu982His) rs1010404596 0.00001
NM_001366385.1(CARD14):c.2971G>A (p.Asp991Asn) rs377543184 0.00001
NM_001366385.1(CARD14):c.2996C>T (p.Thr999Met) rs534845615 0.00001
NC_000017.10:g.(?_78177655)_(78183100_?)del
NM_001366385.1(CARD14):c.1855G>T (p.Asp619Tyr)
NM_001366385.1(CARD14):c.1858T>A (p.Tyr620Asn)
NM_001366385.1(CARD14):c.1873C>T (p.Pro625Ser) rs2040988522
NM_001366385.1(CARD14):c.1882A>G (p.Lys628Glu)
NM_001366385.1(CARD14):c.1895A>G (p.Glu632Gly)
NM_001366385.1(CARD14):c.1909G>A (p.Glu637Lys) rs2144429872
NM_001366385.1(CARD14):c.1913A>C (p.Glu638Ala)
NM_001366385.1(CARD14):c.1925T>A (p.Leu642His)
NM_001366385.1(CARD14):c.1936del (p.Val646fs) rs1457086329
NM_001366385.1(CARD14):c.1937T>C (p.Val646Ala)
NM_001366385.1(CARD14):c.1964A>T (p.Lys655Met)
NM_001366385.1(CARD14):c.1965G>A (p.Lys655=)
NM_001366385.1(CARD14):c.1966G>A (p.Val656Ile) rs2144432945
NM_001366385.1(CARD14):c.1978+2T>C
NM_001366385.1(CARD14):c.1979G>A (p.Gly660Asp)
NM_001366385.1(CARD14):c.1979G>T (p.Gly660Val) rs1238031435
NM_001366385.1(CARD14):c.1982A>C (p.Tyr661Ser) rs763973976
NM_001366385.1(CARD14):c.1982A>T (p.Tyr661Phe)
NM_001366385.1(CARD14):c.1985dup (p.Arg663fs)
NM_001366385.1(CARD14):c.1997A>G (p.Gln666Arg) rs761312685
NM_001366385.1(CARD14):c.2000A>T (p.Asp667Val) rs1031489302
NM_001366385.1(CARD14):c.2005G>A (p.Glu669Lys)
NM_001366385.1(CARD14):c.2006A>G (p.Glu669Gly)
NM_001366385.1(CARD14):c.2024C>T (p.Ser675Leu)
NM_001366385.1(CARD14):c.2035T>C (p.Phe679Leu) rs772268382
NM_001366385.1(CARD14):c.2057C>T (p.Ala686Val)
NM_001366385.1(CARD14):c.2066G>A (p.Gly689Asp)
NM_001366385.1(CARD14):c.2117C>T (p.Thr706Ile)
NM_001366385.1(CARD14):c.2122A>C (p.Thr708Pro) rs2041026658
NM_001366385.1(CARD14):c.2126T>C (p.Met709Thr)
NM_001366385.1(CARD14):c.2153C>T (p.Ala718Val)
NM_001366385.1(CARD14):c.2164A>G (p.Asn722Asp)
NM_001366385.1(CARD14):c.2168C>A (p.Ser723Tyr)
NM_001366385.1(CARD14):c.2172C>A (p.Tyr724Ter) rs141122143
NM_001366385.1(CARD14):c.2177T>C (p.Met726Thr)
NM_001366385.1(CARD14):c.2197G>A (p.Gly733Ser)
NM_001366385.1(CARD14):c.2219+3G>A
NM_001366385.1(CARD14):c.2219+4A>G rs2041033764
NM_001366385.1(CARD14):c.2220-3_2220-2dup
NM_001366385.1(CARD14):c.2226G>C (p.Gln742His) rs2144510433
NM_001366385.1(CARD14):c.2227C>G (p.Gln743Glu) rs2041123415
NM_001366385.1(CARD14):c.2261A>T (p.Gln754Leu)
NM_001366385.1(CARD14):c.2269A>T (p.Thr757Ser)
NM_001366385.1(CARD14):c.2272G>A (p.Val758Met)
NM_001366385.1(CARD14):c.2317A>T (p.Ile773Phe) rs754681974
NM_001366385.1(CARD14):c.2330A>G (p.Asp777Gly) rs1598706931
NM_001366385.1(CARD14):c.2357T>C (p.Leu786Ser) rs542846594
NM_001366385.1(CARD14):c.2372G>A (p.Gly791Asp) rs1217182656
NM_001366385.1(CARD14):c.2376G>T (p.Gln792His) rs993221979
NM_001366385.1(CARD14):c.2377T>A (p.Leu793Met)
NM_001366385.1(CARD14):c.2377T>G (p.Leu793Val)
NM_001366385.1(CARD14):c.2382C>G (p.Asp794Glu)
NM_001366385.1(CARD14):c.2384C>T (p.Pro795Leu) rs2144526744
NM_001366385.1(CARD14):c.2388C>G (p.Ser796Arg)
NM_001366385.1(CARD14):c.2392dup (p.Met798fs) rs2144527157
NM_001366385.1(CARD14):c.2398+11G>A
NM_001366385.1(CARD14):c.2398+3G>A rs371430475
NM_001366385.1(CARD14):c.2726G>A (p.Ser909Asn) rs1359027479
NM_001366385.1(CARD14):c.2740C>A (p.His914Asn) rs199555156
NM_001366385.1(CARD14):c.2770C>A (p.His924Asn)
NM_001366385.1(CARD14):c.2777C>G (p.Ser926Cys)
NM_001366385.1(CARD14):c.2778dup (p.Val927fs) rs2144608270
NM_001366385.1(CARD14):c.2785G>A (p.Glu929Lys) rs1567907237
NM_001366385.1(CARD14):c.2786AGA[1] (p.Lys930del) rs1474412398
NM_001366385.1(CARD14):c.2807+2T>C
NM_001366385.1(CARD14):c.2818C>T (p.Gln940Ter)
NM_001366385.1(CARD14):c.2819A>G (p.Gln940Arg) rs2041449908
NM_001366385.1(CARD14):c.2821_2827del (p.Arg941fs) rs2144636798
NM_001366385.1(CARD14):c.2826G>C (p.Leu942Phe) rs2041450692
NM_001366385.1(CARD14):c.2830A>G (p.Thr944Ala) rs2144637132
NM_001366385.1(CARD14):c.2836G>A (p.Glu946Lys)
NM_001366385.1(CARD14):c.2845C>A (p.Leu949Ile)
NM_001366385.1(CARD14):c.2857G>T (p.Ala953Ser)
NM_001366385.1(CARD14):c.2864AGG[2] (p.Glu957del) rs937454631
NM_001366385.1(CARD14):c.2881G>A (p.Asp961Asn)
NM_001366385.1(CARD14):c.2882A>C (p.Asp961Ala)
NM_001366385.1(CARD14):c.2888C>T (p.Ala963Val) rs1176488460
NM_001366385.1(CARD14):c.2891C>T (p.Pro964Leu)
NM_001366385.1(CARD14):c.2894G>C (p.Cys965Ser) rs769815186
NM_001366385.1(CARD14):c.2917G>C (p.Asp973His) rs2041459131
NM_001366385.1(CARD14):c.2918A>G (p.Asp973Gly)
NM_001366385.1(CARD14):c.2924G>C (p.Trp975Ser) rs2041459906
NM_001366385.1(CARD14):c.2927G>A (p.Ser976Asn) rs2041460345
NM_001366385.1(CARD14):c.2928C>A (p.Ser976Arg) rs755632854
NM_001366385.1(CARD14):c.2929G>A (p.Asp977Asn)
NM_001366385.1(CARD14):c.2929_2940del (p.Asp977_Gly980del)
NM_001366385.1(CARD14):c.2947A>G (p.Ser983Gly) rs2041462765
NM_001366385.1(CARD14):c.2957G>A (p.Arg986His)
NM_001366385.1(CARD14):c.2963C>T (p.Ala988Val) rs2041464783
NM_001366385.1(CARD14):c.2972A>G (p.Asp991Gly) rs2144640992
NM_001366385.1(CARD14):c.2973C>A (p.Asp991Glu)
NM_001366385.1(CARD14):c.2980AAG[1] (p.Lys995del) rs766775669
NM_001366385.1(CARD14):c.3003G>C (p.Gln1001His)

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