ClinVar Miner

List of variants reported as uncertain significance for Generalized epilepsy-paroxysmal dyskinesia syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 439
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HGVS dbSNP gnomAD frequency
NM_001161352.2(KCNMA1):c.62G>A (p.Ser21Asn) rs794726902 0.00012
NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser) rs914048941 0.00009
NM_001161352.2(KCNMA1):c.1749+6G>A rs373648078 0.00009
NM_001161352.2(KCNMA1):c.3635C>T (p.Thr1212Ile) rs200773083 0.00008
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala) rs200420124 0.00006
NM_001161352.2(KCNMA1):c.2015+5G>C rs746586408 0.00005
NM_001161352.2(KCNMA1):c.122C>T (p.Ser41Phe) rs766759815 0.00004
NM_001161352.2(KCNMA1):c.173C>T (p.Ser58Leu) rs776719617 0.00004
NM_001161352.2(KCNMA1):c.2276A>C (p.Glu759Ala) rs767957728 0.00004
NM_001161352.2(KCNMA1):c.2966G>A (p.Arg989His) rs369646039 0.00004
NM_001161352.2(KCNMA1):c.3499G>A (p.Val1167Met) rs376264061 0.00004
NM_001161352.2(KCNMA1):c.1831G>A (p.Val611Met) rs200668674 0.00003
NM_001161352.2(KCNMA1):c.2367C>A (p.Asp789Glu) rs587780363 0.00003
NM_001161352.2(KCNMA1):c.2405T>C (p.Met802Thr) rs75573826 0.00003
NM_001161352.2(KCNMA1):c.2714C>T (p.Thr905Met) rs201192736 0.00003
NM_001161352.2(KCNMA1):c.3147G>A (p.Ala1049=) rs201397661 0.00003
NM_001161352.2(KCNMA1):c.31A>G (p.Ser11Gly) rs886047270 0.00003
NM_001161352.2(KCNMA1):c.3673C>T (p.Arg1225Trp) rs148648986 0.00003
NM_001161352.2(KCNMA1):c.469G>A (p.Gly157Ser) rs767576877 0.00003
NM_001161352.2(KCNMA1):c.1306G>A (p.Val436Ile) rs762346849 0.00002
NM_001161352.2(KCNMA1):c.1554G>T (p.Lys518Asn) rs201996416 0.00002
NM_001161352.2(KCNMA1):c.1849A>G (p.Thr617Ala) rs199572642 0.00002
NM_001161352.2(KCNMA1):c.2089C>T (p.Arg697Trp) rs202188493 0.00002
NM_001161352.2(KCNMA1):c.2092C>T (p.Pro698Ser) rs886043569 0.00002
NM_001161352.2(KCNMA1):c.2481C>G (p.Ile827Met) rs760789370 0.00002
NM_001161352.2(KCNMA1):c.2770G>A (p.Val924Ile) rs764912308 0.00002
NM_001161352.2(KCNMA1):c.365G>C (p.Gly122Ala) rs199568153 0.00002
NM_001161352.2(KCNMA1):c.3674G>A (p.Arg1225Gln) rs200410171 0.00002
NM_001161352.2(KCNMA1):c.85A>G (p.Ile29Val) rs369845234 0.00002
NM_001161352.2(KCNMA1):c.92C>G (p.Ala31Gly) rs201551432 0.00002
NM_001161352.2(KCNMA1):c.1321G>A (p.Val441Ile) rs756023062 0.00001
NM_001161352.2(KCNMA1):c.140C>T (p.Ser47Phe) rs907549386 0.00001
NM_001161352.2(KCNMA1):c.1442T>C (p.Ile481Thr) rs199570223 0.00001
NM_001161352.2(KCNMA1):c.1486G>A (p.Ala496Thr) rs202213336 0.00001
NM_001161352.2(KCNMA1):c.1534A>G (p.Ile512Val) rs781682363 0.00001
NM_001161352.2(KCNMA1):c.1622A>G (p.Asn541Ser) rs1447211434 0.00001
NM_001161352.2(KCNMA1):c.1632A>C (p.Glu544Asp) rs143385319 0.00001
NM_001161352.2(KCNMA1):c.1749+5C>T rs868280659 0.00001
NM_001161352.2(KCNMA1):c.1822A>G (p.Ser608Gly) rs760442123 0.00001
NM_001161352.2(KCNMA1):c.187G>C (p.Glu63Gln) rs749265202 0.00001
NM_001161352.2(KCNMA1):c.1967A>C (p.Glu656Ala) rs917980352 0.00001
NM_001161352.2(KCNMA1):c.1990G>A (p.Ala664Thr) rs2092521373 0.00001
NM_001161352.2(KCNMA1):c.2282C>T (p.Pro761Leu) rs771363378 0.00001
NM_001161352.2(KCNMA1):c.2306A>C (p.Lys769Thr) rs2075559827 0.00001
NM_001161352.2(KCNMA1):c.2345C>T (p.Ser782Leu) rs145067821 0.00001
NM_001161352.2(KCNMA1):c.2350A>G (p.Lys784Glu) rs751919609 0.00001
NM_001161352.2(KCNMA1):c.2404A>G (p.Met802Val) rs200544842 0.00001
NM_001161352.2(KCNMA1):c.2414A>G (p.Asn805Ser) rs1211672809 0.00001
NM_001161352.2(KCNMA1):c.2660A>G (p.Lys887Arg) rs753684298 0.00001
NM_001161352.2(KCNMA1):c.2806A>G (p.Thr936Ala) rs201167566 0.00001
NM_001161352.2(KCNMA1):c.2981C>T (p.Thr994Ile) rs768061213 0.00001
NM_001161352.2(KCNMA1):c.3118G>A (p.Val1040Ile) rs201534741 0.00001
NM_001161352.2(KCNMA1):c.3145G>A (p.Ala1049Thr) rs199586877 0.00001
NM_001161352.2(KCNMA1):c.3147+3G>A rs1371574005 0.00001
NM_001161352.2(KCNMA1):c.3147+6T>C rs558650814 0.00001
NM_001161352.2(KCNMA1):c.3148A>G (p.Thr1050Ala) rs2040120292 0.00001
NM_001161352.2(KCNMA1):c.3166A>G (p.Ile1056Val) rs1005340112 0.00001
NM_001161352.2(KCNMA1):c.3281A>G (p.Asn1094Ser) rs1395464276 0.00001
NM_001161352.2(KCNMA1):c.3319G>A (p.Asp1107Asn) rs1314238418 0.00001
NM_001161352.2(KCNMA1):c.340C>A (p.Leu114Met) rs780623276 0.00001
NM_001161352.2(KCNMA1):c.3416G>A (p.Arg1139Gln) rs1397556923 0.00001
NM_001161352.2(KCNMA1):c.3493G>C (p.Glu1165Gln) rs757053731 0.00001
NM_001161352.2(KCNMA1):c.3506C>T (p.Thr1169Met) rs200284976 0.00001
NM_001161352.2(KCNMA1):c.3556C>T (p.Arg1186Trp) rs747029218 0.00001
NM_001161352.2(KCNMA1):c.3557G>A (p.Arg1186Gln) rs200141207 0.00001
NM_001161352.2(KCNMA1):c.3578C>T (p.Ser1193Phe) rs777595748 0.00001
NM_001161352.2(KCNMA1):c.3584C>T (p.Ser1195Leu) rs202024249 0.00001
NM_001161352.2(KCNMA1):c.3598A>G (p.Ser1200Gly) rs985517880 0.00001
NM_001161352.2(KCNMA1):c.3644G>A (p.Arg1215Gln) rs760806787 0.00001
NM_001161352.2(KCNMA1):c.364G>A (p.Gly122Arg) rs1167824169 0.00001
NM_001161352.2(KCNMA1):c.3653G>A (p.Arg1218Gln) rs200723995 0.00001
NM_001161352.2(KCNMA1):c.3670T>C (p.Ser1224Pro) rs1370349180 0.00001
NM_001161352.2(KCNMA1):c.3703C>T (p.Arg1235Trp) rs139370249 0.00001
NM_001161352.2(KCNMA1):c.385C>G (p.Gln129Glu) rs377430922 0.00001
NM_001161352.2(KCNMA1):c.422C>T (p.Thr141Ile) rs1002138627 0.00001
NM_001161352.2(KCNMA1):c.4G>A (p.Ala2Thr) rs1344908173 0.00001
NM_001161352.2(KCNMA1):c.59G>A (p.Gly20Asp) rs888320237 0.00001
NM_001161352.2(KCNMA1):c.632A>G (p.Lys211Arg) rs771113362 0.00001
NM_001161352.2(KCNMA1):c.667G>A (p.Val223Met) rs779829350 0.00001
NM_001161352.2(KCNMA1):c.96C>G (p.Asn32Lys) rs749212119 0.00001
NC_000010.10:g.(?_78844375)_(78846371_?)del
NC_000010.10:g.(?_79396125)_(79397420_?)dup
NC_000010.10:g.(?_79397003)_(79397400_?)dup
NC_000010.10:g.(?_79397003)_(79603484_?)dup
NM_001161352.2(KCNMA1):c.1049T>G (p.Met350Arg)
NM_001161352.2(KCNMA1):c.104G>A (p.Ser35Asn)
NM_001161352.2(KCNMA1):c.1078G>A (p.Ala360Thr)
NM_001161352.2(KCNMA1):c.1105A>G (p.Met369Val)
NM_001161352.2(KCNMA1):c.1105A>T (p.Met369Leu) rs2153875624
NM_001161352.2(KCNMA1):c.1112T>G (p.Phe371Cys)
NM_001161352.2(KCNMA1):c.1123G>T (p.Gly375Trp)
NM_001161352.2(KCNMA1):c.112G>A (p.Ala38Thr) rs767099267
NM_001161352.2(KCNMA1):c.112G>C (p.Ala38Pro) rs767099267
NM_001161352.2(KCNMA1):c.112G>T (p.Ala38Ser)
NM_001161352.2(KCNMA1):c.1132G>A (p.Ala378Thr) rs2097249003
NM_001161352.2(KCNMA1):c.1171A>G (p.Ile391Val) rs1402453017
NM_001161352.2(KCNMA1):c.117CTC[10] (p.Ser58_Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.117CTC[11] (p.Ser57_Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.117CTC[9] (p.Ser59_Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.1181G>A (p.Arg394His) rs1397483743
NM_001161352.2(KCNMA1):c.1208C>T (p.Ala403Val)
NM_001161352.2(KCNMA1):c.1213A>T (p.Ser405Cys)
NM_001161352.2(KCNMA1):c.1229T>C (p.Ile410Thr) rs2153792409
NM_001161352.2(KCNMA1):c.122C>A (p.Ser41Tyr)
NM_001161352.2(KCNMA1):c.128C>T (p.Ser43Phe)
NM_001161352.2(KCNMA1):c.12_17dup (p.Gly10_Ser11insGlyGly)
NM_001161352.2(KCNMA1):c.12_20dup (p.Gly10_Ser11insGlyGlyGly)
NM_001161352.2(KCNMA1):c.1315G>A (p.Glu439Lys)
NM_001161352.2(KCNMA1):c.132_143dup (p.Ser60_Val61insSerSerSerSer)
NM_001161352.2(KCNMA1):c.1334+3A>G rs2153792200
NM_001161352.2(KCNMA1):c.1335C>T (p.Asn445=)
NM_001161352.2(KCNMA1):c.1336A>G (p.Ile446Val) rs2096695305
NM_001161352.2(KCNMA1):c.1339T>C (p.Ser447Pro)
NM_001161352.2(KCNMA1):c.1343C>G (p.Pro448Arg)
NM_001161352.2(KCNMA1):c.135CTCTTC[3] (p.Ser60_Val61insSerSer)
NM_001161352.2(KCNMA1):c.135_143dup (p.Ser60_Val61insSerSerSer)
NM_001161352.2(KCNMA1):c.138_161del (p.Ser53_Ser60del) rs794726903
NM_001161352.2(KCNMA1):c.13GGC[2] (p.Gly7_Gly10del) rs750804948
NM_001161352.2(KCNMA1):c.13GGC[3] (p.Gly8_Gly10del) rs750804948
NM_001161352.2(KCNMA1):c.13GGC[4] (p.Gly9_Gly10del) rs750804948
NM_001161352.2(KCNMA1):c.13GGC[5] (p.Gly10del) rs750804948
NM_001161352.2(KCNMA1):c.13GGC[7] (p.Gly10dup) rs750804948
NM_001161352.2(KCNMA1):c.13GGC[8] (p.Gly9_Gly10dup) rs750804948
NM_001161352.2(KCNMA1):c.13GGC[9] (p.Gly10_Ser11insGlyGlyGly)
NM_001161352.2(KCNMA1):c.1408G>A (p.Val470Ile)
NM_001161352.2(KCNMA1):c.1441-7G>T
NM_001161352.2(KCNMA1):c.144TTC[1] (p.Ser58_Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.144TTC[6] (p.Ser59_Ser60dup) rs751901610
NM_001161352.2(KCNMA1):c.144_170dup (p.Ser60_Val61insSerSerSerSerSerSerSerSerSer)
NM_001161352.2(KCNMA1):c.147_167dup (p.Ser60_Val61insSerSerSerSerSerSerSer)
NM_001161352.2(KCNMA1):c.1491C>G (p.Asp497Glu) rs1381424078
NM_001161352.2(KCNMA1):c.1493C>T (p.Pro498Leu) rs2096653786
NM_001161352.2(KCNMA1):c.14_15insAGG (p.Gly10dup) rs2093907468
NM_001161352.2(KCNMA1):c.1515T>A (p.Asn505Lys)
NM_001161352.2(KCNMA1):c.1550C>T (p.Pro517Leu)
NM_001161352.2(KCNMA1):c.155C>T (p.Ser52Phe) rs1483499989
NM_001161352.2(KCNMA1):c.156CTC[4] (p.Ser60_Val61insSer)
NM_001161352.2(KCNMA1):c.1585C>T (p.His529Tyr)
NM_001161352.2(KCNMA1):c.1586A>G (p.His529Arg)
NM_001161352.2(KCNMA1):c.1594G>A (p.Ala532Thr)
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer) rs780558929
NM_001161352.2(KCNMA1):c.1609A>C (p.Ile537Leu)
NM_001161352.2(KCNMA1):c.1612C>G (p.Pro538Ala)
NM_001161352.2(KCNMA1):c.161C>T (p.Ser54Phe)
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del) rs754606765
NM_001161352.2(KCNMA1):c.1642G>A (p.Ala548Thr) rs974940310
NM_001161352.2(KCNMA1):c.168_179del (p.Ser57_Ser60del) rs1015011962
NM_001161352.2(KCNMA1):c.16_33del (p.Gly6_Ser11del) rs1491384967
NM_001161352.2(KCNMA1):c.16_33dup (p.Gly6_Ser11dup) rs1491384967
NM_001161352.2(KCNMA1):c.1712T>C (p.Met571Thr) rs2153710128
NM_001161352.2(KCNMA1):c.1713G>A (p.Met571Ile)
NM_001161352.2(KCNMA1):c.1744A>G (p.Ile582Val)
NM_001161352.2(KCNMA1):c.1750-3T>C rs369035808
NM_001161352.2(KCNMA1):c.1752T>A (p.Ile584=)
NM_001161352.2(KCNMA1):c.175T>C (p.Ser59Pro) rs2093880726
NM_001161352.2(KCNMA1):c.1767G>T (p.Trp589Cys)
NM_001161352.2(KCNMA1):c.176C>T (p.Ser59Phe)
NM_001161352.2(KCNMA1):c.1775A>G (p.Tyr592Cys)
NM_001161352.2(KCNMA1):c.1792T>G (p.Ser598Ala) rs2094532158
NM_001161352.2(KCNMA1):c.1795A>G (p.Asn599Asp)
NM_001161352.2(KCNMA1):c.179C>G (p.Ser60Trp) rs768769748
NM_001161352.2(KCNMA1):c.179C>T (p.Ser60Leu) rs768769748
NM_001161352.2(KCNMA1):c.1831G>C (p.Val611Leu) rs200668674
NM_001161352.2(KCNMA1):c.1835G>A (p.Gly612Asp)
NM_001161352.2(KCNMA1):c.1847C>G (p.Pro616Arg) rs2094530696
NM_001161352.2(KCNMA1):c.1850C>T (p.Thr617Ile) rs1440636763
NM_001161352.2(KCNMA1):c.1860-3C>T
NM_001161352.2(KCNMA1):c.1860G>C (p.Glu620Asp)
NM_001161352.2(KCNMA1):c.186C>G (p.His62Gln)
NM_001161352.2(KCNMA1):c.1870G>T (p.Val624Leu) rs2153527454
NM_001161352.2(KCNMA1):c.1880A>G (p.Lys627Arg) rs1555142864
NM_001161352.2(KCNMA1):c.1897A>G (p.Ile633Val)
NM_001161352.2(KCNMA1):c.1904A>G (p.Tyr635Cys)
NM_001161352.2(KCNMA1):c.1909T>G (p.Ser637Ala) rs1409251473
NM_001161352.2(KCNMA1):c.1925G>A (p.Ser642Asn)
NM_001161352.2(KCNMA1):c.1926C>G (p.Ser642Arg)
NM_001161352.2(KCNMA1):c.1928G>T (p.Arg643Leu) rs2093602876
NM_001161352.2(KCNMA1):c.1929-6G>A rs2092525713
NM_001161352.2(KCNMA1):c.1929T>C (p.Arg643=) rs1064797145
NM_001161352.2(KCNMA1):c.1936A>G (p.Ile646Val) rs2092524960
NM_001161352.2(KCNMA1):c.1951C>G (p.His651Asp)
NM_001161352.2(KCNMA1):c.1952A>C (p.His651Pro) rs200013065
NM_001161352.2(KCNMA1):c.1952A>T (p.His651Leu) rs200013065
NM_001161352.2(KCNMA1):c.1964A>T (p.Gln655Leu) rs2092523707
NM_001161352.2(KCNMA1):c.1989C>G (p.Ile663Met)
NM_001161352.2(KCNMA1):c.19_33dup (p.Ser11_Ser12insGlyGlyGlyGlySer)
NM_001161352.2(KCNMA1):c.1A>G (p.Met1Val)
NM_001161352.2(KCNMA1):c.2053A>G (p.Thr685Ala) rs1449813631
NM_001161352.2(KCNMA1):c.2053A>T (p.Thr685Ser)
NM_001161352.2(KCNMA1):c.2056G>A (p.Asp686Asn)
NM_001161352.2(KCNMA1):c.2057A>T (p.Asp686Val) rs2153454278
NM_001161352.2(KCNMA1):c.2066G>A (p.Arg689Lys)
NM_001161352.2(KCNMA1):c.2067A>C (p.Arg689Ser) rs2153454235
NM_001161352.2(KCNMA1):c.2078G>A (p.Cys693Tyr) rs2090878635
NM_001161352.2(KCNMA1):c.211A>G (p.Ile71Val)
NM_001161352.2(KCNMA1):c.215C>G (p.Pro72Arg) rs2093876319
NM_001161352.2(KCNMA1):c.225G>A (p.Met75Ile) rs1464796627
NM_001161352.2(KCNMA1):c.2291T>C (p.Leu764Pro) rs781228418
NM_001161352.2(KCNMA1):c.22_33del (p.Gly8_Ser11del)
NM_001161352.2(KCNMA1):c.2302A>G (p.Lys768Glu)
NM_001161352.2(KCNMA1):c.2316T>A (p.Asn772Lys)
NM_001161352.2(KCNMA1):c.2317G>A (p.Gly773Arg)
NM_001161352.2(KCNMA1):c.2323A>C (p.Met775Leu)
NM_001161352.2(KCNMA1):c.2327G>A (p.Arg776Gln) rs200676185
NM_001161352.2(KCNMA1):c.2332T>A (p.Ser778Thr)
NM_001161352.2(KCNMA1):c.2336C>T (p.Pro779Leu)
NM_001161352.2(KCNMA1):c.2339A>G (p.Asn780Ser)
NM_001161352.2(KCNMA1):c.233C>T (p.Pro78Leu)
NM_001161352.2(KCNMA1):c.2342C>A (p.Thr781Asn) rs976855600
NM_001161352.2(KCNMA1):c.2353C>G (p.Leu785Val)
NM_001161352.2(KCNMA1):c.2369_2371dup (p.Pro790_Leu791insSer)
NM_001161352.2(KCNMA1):c.2383G>C (p.Gly795Arg)
NM_001161352.2(KCNMA1):c.2387A>T (p.Asn796Ile) rs2152988834
NM_001161352.2(KCNMA1):c.2396T>C (p.Ile799Thr)
NM_001161352.2(KCNMA1):c.2400C>G (p.Asp800Glu) rs2152988719
NM_001161352.2(KCNMA1):c.2408A>G (p.Asp803Gly)
NM_001161352.2(KCNMA1):c.2411C>T (p.Ser804Phe) rs2152988601
NM_001161352.2(KCNMA1):c.2423A>C (p.Lys808Thr)
NM_001161352.2(KCNMA1):c.2423A>G (p.Lys808Arg) rs780661063
NM_001161352.2(KCNMA1):c.2475A>T (p.Lys825Asn)
NM_001161352.2(KCNMA1):c.2480T>C (p.Ile827Thr)
NM_001161352.2(KCNMA1):c.2485A>G (p.Thr829Ala)
NM_001161352.2(KCNMA1):c.2489G>A (p.Arg830Gln)
NM_001161352.2(KCNMA1):c.2503A>G (p.Met835Val) rs2065356454
NM_001161352.2(KCNMA1):c.2509G>A (p.Val837Ile)
NM_001161352.2(KCNMA1):c.2536A>G (p.Ile846Val)
NM_001161352.2(KCNMA1):c.253C>A (p.Arg85Ser) rs2154572127
NM_001161352.2(KCNMA1):c.2545G>A (p.Asp849Asn)
NM_001161352.2(KCNMA1):c.2547C>A (p.Asp849Glu) rs147369374
NM_001161352.2(KCNMA1):c.2572C>T (p.Arg858Trp) rs199681253
NM_001161352.2(KCNMA1):c.2593C>T (p.Arg865Cys) rs1591664697
NM_001161352.2(KCNMA1):c.25_33del (p.Gly9_Ser11del)
NM_001161352.2(KCNMA1):c.2629A>G (p.Ile877Val)
NM_001161352.2(KCNMA1):c.2656C>T (p.Leu886Phe) rs2152943139
NM_001161352.2(KCNMA1):c.2663G>A (p.Arg888Gln)
NM_001161352.2(KCNMA1):c.2681A>G (p.His894Arg) rs2065325262
NM_001161352.2(KCNMA1):c.2681A>T (p.His894Leu)
NM_001161352.2(KCNMA1):c.2689C>T (p.Pro897Ser)
NM_001161352.2(KCNMA1):c.2701A>C (p.Ile901Leu) rs762661695
NM_001161352.2(KCNMA1):c.2709T>C (p.Pro903=)
NM_001161352.2(KCNMA1):c.2710-3A>T rs1214940006
NM_001161352.2(KCNMA1):c.2710-8_2710-7inv
NM_001161352.2(KCNMA1):c.2710G>A (p.Gly904Ser) rs2063511193
NM_001161352.2(KCNMA1):c.2714C>G (p.Thr905Arg) rs201192736
NM_001161352.2(KCNMA1):c.2731G>C (p.Asp911His)
NM_001161352.2(KCNMA1):c.2783C>T (p.Ala928Val) rs2152885647
NM_001161352.2(KCNMA1):c.2786A>G (p.Asn929Ser)
NM_001161352.2(KCNMA1):c.2789A>C (p.Gln930Pro) rs2152885532
NM_001161352.2(KCNMA1):c.278C>T (p.Ser93Phe)
NM_001161352.2(KCNMA1):c.2791A>G (p.Asn931Asp)
NM_001161352.2(KCNMA1):c.2795A>G (p.Asn932Ser)
NM_001161352.2(KCNMA1):c.2798T>C (p.Ile933Thr)
NM_001161352.2(KCNMA1):c.27_56del (p.Gly13_Ser22del) rs1163075445
NM_001161352.2(KCNMA1):c.27_56dup (p.Ser22_Leu23insGlyGlyGlyGlyGlyGlyGlyGlySerSer)
NM_001161352.2(KCNMA1):c.283A>G (p.Met95Val) rs762347754
NM_001161352.2(KCNMA1):c.2873G>T (p.Ser958Ile) rs2152884880
NM_001161352.2(KCNMA1):c.2878G>A (p.Gly960Arg)
NM_001161352.2(KCNMA1):c.2881G>A (p.Val961Ile)
NM_001161352.2(KCNMA1):c.2893A>G (p.Asn965Asp)
NM_001161352.2(KCNMA1):c.28G>A (p.Gly10Ser)
NM_001161352.2(KCNMA1):c.2912C>A (p.Pro971His)
NM_001161352.2(KCNMA1):c.2926A>G (p.Arg976Gly)
NM_001161352.2(KCNMA1):c.2933C>T (p.Ser978Phe)
NM_001161352.2(KCNMA1):c.2948C>G (p.Pro983Arg)
NM_001161352.2(KCNMA1):c.2951T>C (p.Val984Ala)
NM_001161352.2(KCNMA1):c.2956G>A (p.Gly986Arg)
NM_001161352.2(KCNMA1):c.2956G>C (p.Gly986Arg) rs763598041
NM_001161352.2(KCNMA1):c.2977A>G (p.Ile993Val)
NM_001161352.2(KCNMA1):c.298_309del (p.Gly100_Phe103del) rs2093871879
NM_001161352.2(KCNMA1):c.2995A>C (p.Ile999Leu)
NM_001161352.2(KCNMA1):c.3016+16_3016+17inv
NM_001161352.2(KCNMA1):c.3016+6G>A rs760003715
NM_001161352.2(KCNMA1):c.3017T>C (p.Val1006Ala)
NM_001161352.2(KCNMA1):c.3035A>G (p.Gln1012Arg) rs2049487457
NM_001161352.2(KCNMA1):c.3054TGA[4] (p.Asp1021_Pro1022insAsp)
NM_001161352.2(KCNMA1):c.3086C>T (p.Thr1029Met)
NM_001161352.2(KCNMA1):c.30C>T (p.Gly10=) rs2093904313
NM_001161352.2(KCNMA1):c.30_56del (p.Ser11_Gly19del) rs1163075445
NM_001161352.2(KCNMA1):c.30_56dup (p.Ser11_Gly19dup) rs1163075445
NM_001161352.2(KCNMA1):c.3136C>T (p.Leu1046Phe)
NM_001161352.2(KCNMA1):c.3139A>G (p.Met1047Val)
NM_001161352.2(KCNMA1):c.3141G>A (p.Met1047Ile)
NM_001161352.2(KCNMA1):c.3146C>T (p.Ala1049Val) rs2152363692
NM_001161352.2(KCNMA1):c.3148-65_3177dup
NM_001161352.2(KCNMA1):c.3149C>T (p.Thr1050Met) rs915080941
NM_001161352.2(KCNMA1):c.3168C>G (p.Ile1056Met)
NM_001161352.2(KCNMA1):c.3181C>T (p.Arg1061Trp)
NM_001161352.2(KCNMA1):c.3182G>A (p.Arg1061Gln) rs764468883
NM_001161352.2(KCNMA1):c.31AGC[1] (p.Ser12del) rs757636988
NM_001161352.2(KCNMA1):c.31AGC[3] (p.Ser12dup) rs757636988
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly) rs1555528807
NM_001161352.2(KCNMA1):c.31_45del (p.Ser11_Gly15del) rs752334052
NM_001161352.2(KCNMA1):c.31_45dup (p.Gly15_Gly16insSerSerGlyGlyGly)
NM_001161352.2(KCNMA1):c.31_48del (p.Ser11_Gly16del) rs759136661
NM_001161352.2(KCNMA1):c.31_48dup (p.Ser11_Gly16dup) rs759136661
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264
NM_001161352.2(KCNMA1):c.31_51dup (p.Ser11_Gly17dup) rs1484259264
NM_001161352.2(KCNMA1):c.31_54del (p.Ser11_Gly18del) rs587780364
NM_001161352.2(KCNMA1):c.31_57del (p.Ser11_Gly19del)
NM_001161352.2(KCNMA1):c.320T>A (p.Leu107His)
NM_001161352.2(KCNMA1):c.3241G>A (p.Ala1081Thr)
NM_001161352.2(KCNMA1):c.3259A>G (p.Ser1087Gly)
NM_001161352.2(KCNMA1):c.3263C>A (p.Thr1088Asn)
NM_001161352.2(KCNMA1):c.3263C>T (p.Thr1088Ile) rs769712220
NM_001161352.2(KCNMA1):c.3266C>T (p.Pro1089Leu) rs1208962527
NM_001161352.2(KCNMA1):c.3285G>C (p.Arg1095Ser)
NM_001161352.2(KCNMA1):c.3286G>A (p.Asp1096Asn)
NM_001161352.2(KCNMA1):c.3289C>T (p.Arg1097Cys) rs2151872034
NM_001161352.2(KCNMA1):c.3290G>A (p.Arg1097His)
NM_001161352.2(KCNMA1):c.3302C>T (p.Ala1101Val)
NM_001161352.2(KCNMA1):c.3306G>T (p.Gln1102His)
NM_001161352.2(KCNMA1):c.3316C>T (p.Leu1106Phe) rs2151871204
NM_001161352.2(KCNMA1):c.334A>G (p.Lys112Glu)
NM_001161352.2(KCNMA1):c.3353G>T (p.Cys1118Phe)
NM_001161352.2(KCNMA1):c.336G>C (p.Lys112Asn) rs748112495
NM_001161352.2(KCNMA1):c.3388T>G (p.Tyr1130Asp)
NM_001161352.2(KCNMA1):c.3440C>A (p.Thr1147Asn)
NM_001161352.2(KCNMA1):c.3440C>T (p.Thr1147Ile) rs1253143924
NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg)
NM_001161352.2(KCNMA1):c.3446G>T (p.Ser1149Ile)
NM_001161352.2(KCNMA1):c.3457A>C (p.Lys1153Gln) rs2151796883
NM_001161352.2(KCNMA1):c.3467T>C (p.Val1156Ala)
NM_001161352.2(KCNMA1):c.3485A>G (p.Tyr1162Cys) rs2037618919
NM_001161352.2(KCNMA1):c.349G>A (p.Val117Met) rs1257184004
NM_001161352.2(KCNMA1):c.349G>C (p.Val117Leu)
NM_001161352.2(KCNMA1):c.34_39del (p.Ser12_Gly13del) rs2093901062
NM_001161352.2(KCNMA1):c.34_39dup (p.Ser12_Gly13dup) rs2093901062
NM_001161352.2(KCNMA1):c.34_48del (p.Ser12_Gly16del)
NM_001161352.2(KCNMA1):c.34_54dup (p.Gly18_Gly19insSerGlyGlyGlyGlyGlyGly)
NM_001161352.2(KCNMA1):c.352T>G (p.Cys118Gly) rs2154572103
NM_001161352.2(KCNMA1):c.3541A>G (p.Asn1181Asp)
NM_001161352.2(KCNMA1):c.3547G>C (p.Gly1183Arg) rs549360933
NM_001161352.2(KCNMA1):c.3569C>G (p.Ser1190Cys)
NM_001161352.2(KCNMA1):c.3571C>T (p.His1191Tyr) rs2151707984
NM_001161352.2(KCNMA1):c.3575C>T (p.Ser1192Phe)
NM_001161352.2(KCNMA1):c.3581A>G (p.His1194Arg) rs1589551484
NM_001161352.2(KCNMA1):c.3587C>T (p.Ser1196Leu)
NM_001161352.2(KCNMA1):c.3590A>G (p.Gln1197Arg)
NM_001161352.2(KCNMA1):c.3598A>T (p.Ser1200Cys)
NM_001161352.2(KCNMA1):c.3602A>G (p.Lys1201Arg)
NM_001161352.2(KCNMA1):c.3608G>T (p.Ser1203Ile)
NM_001161352.2(KCNMA1):c.3611C>T (p.Ser1204Phe) rs2037569843
NM_001161352.2(KCNMA1):c.3619C>A (p.His1207Asn) rs1476399505
NM_001161352.2(KCNMA1):c.361T>C (p.Cys121Arg) rs1390486916
NM_001161352.2(KCNMA1):c.3623C>A (p.Ser1208Tyr)
NM_001161352.2(KCNMA1):c.362_363delinsTT (p.Cys121Phe) rs2154572100
NM_001161352.2(KCNMA1):c.3634A>G (p.Thr1212Ala)
NM_001161352.2(KCNMA1):c.3641A>G (p.Asn1214Ser) rs1564710775
NM_001161352.2(KCNMA1):c.3643C>T (p.Arg1215Ter) rs769151229
NM_001161352.2(KCNMA1):c.3651C>G (p.Asn1217Lys)
NM_001161352.2(KCNMA1):c.3652C>T (p.Arg1218Trp) rs201703516
NM_001161352.2(KCNMA1):c.3661T>A (p.Ser1221Thr) rs1313181359
NM_001161352.2(KCNMA1):c.3664A>G (p.Arg1222Gly) rs199766376
NM_001161352.2(KCNMA1):c.367G>A (p.Gly123Ser) rs1246413912
NM_001161352.2(KCNMA1):c.368G>A (p.Gly123Asp) rs2093865429
NM_001161352.2(KCNMA1):c.3690C>A (p.Tyr1230Ter) rs199569326
NM_001161352.2(KCNMA1):c.36CGG[10] (p.Gly18_Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[11] (p.Gly17_Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[4] (p.Gly18_Gly20del) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[5] (p.Gly19_Gly20del)
NM_001161352.2(KCNMA1):c.36CGG[6] (p.Gly20del) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[9] (p.Gly19_Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36_65del (p.Gly13_Ser22del) rs1278021902
NM_001161352.2(KCNMA1):c.374C>T (p.Thr125Met) rs2154572092
NM_001161352.2(KCNMA1):c.378+12_378+13delinsAA
NM_001161352.2(KCNMA1):c.378+4A>T
NM_001161352.2(KCNMA1):c.378+5C>A rs757766830
NM_001161352.2(KCNMA1):c.378+5C>G rs757766830
NM_001161352.2(KCNMA1):c.389A>G (p.Lys130Arg)
NM_001161352.2(KCNMA1):c.394A>C (p.Asn132His)
NM_001161352.2(KCNMA1):c.396C>A (p.Asn132Lys)
NM_001161352.2(KCNMA1):c.399T>A (p.Asn133Lys) rs767525618
NM_001161352.2(KCNMA1):c.411G>C (p.Gln137His) rs1171292177
NM_001161352.2(KCNMA1):c.418G>A (p.Gly140Ser)
NM_001161352.2(KCNMA1):c.419G>T (p.Gly140Val) rs1566617381
NM_001161352.2(KCNMA1):c.428A>C (p.Lys143Thr)
NM_001161352.2(KCNMA1):c.436G>A (p.Asp146Asn)
NM_001161352.2(KCNMA1):c.441A>T (p.Glu147Asp) rs2154465169
NM_001161352.2(KCNMA1):c.447G>C (p.Glu149Asp) rs896386800
NM_001161352.2(KCNMA1):c.44G>A (p.Gly15Asp)
NM_001161352.2(KCNMA1):c.452C>T (p.Ala151Val)
NM_001161352.2(KCNMA1):c.454G>A (p.Val152Met) rs2096373042
NM_001161352.2(KCNMA1):c.455T>C (p.Val152Ala)
NM_001161352.2(KCNMA1):c.458C>T (p.Ala153Val)
NM_001161352.2(KCNMA1):c.460G>A (p.Ala154Thr) rs142858967
NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser) rs142858967
NM_001161352.2(KCNMA1):c.463G>A (p.Glu155Lys)
NM_001161352.2(KCNMA1):c.466G>A (p.Val156Ile)
NM_001161352.2(KCNMA1):c.466G>C (p.Val156Leu)
NM_001161352.2(KCNMA1):c.469G>C (p.Gly157Arg) rs767576877
NM_001161352.2(KCNMA1):c.46G>A (p.Gly16Ser)
NM_001161352.2(KCNMA1):c.474G>C (p.Trp158Cys)
NM_001161352.2(KCNMA1):c.484G>A (p.Val162Met)
NM_001161352.2(KCNMA1):c.48_49insAGCGGCGGCGGCGGCGGC (p.Gly16_Gly17insSerGlyGlyGlyGlyGly)
NM_001161352.2(KCNMA1):c.499G>C (p.Gly167Arg) rs2096371606
NM_001161352.2(KCNMA1):c.502G>A (p.Val168Met)
NM_001161352.2(KCNMA1):c.506T>C (p.Met169Thr) rs2154465065
NM_001161352.2(KCNMA1):c.507G>T (p.Met169Ile)
NM_001161352.2(KCNMA1):c.514G>A (p.Ala172Thr) rs2096371289
NM_001161352.2(KCNMA1):c.52_60dup (p.Gly20_Ser21insGlyGlyGly)
NM_001161352.2(KCNMA1):c.541G>A (p.Val181Ile)
NM_001161352.2(KCNMA1):c.559C>G (p.Leu187Val) rs2059603910
NM_001161352.2(KCNMA1):c.55G>A (p.Gly19Arg) rs2154572188
NM_001161352.2(KCNMA1):c.55_60dup (p.Gly19_Gly20dup) rs1350200278
NM_001161352.2(KCNMA1):c.55_63dup (p.Ser21_Ser22insGlyGlySer)
NM_001161352.2(KCNMA1):c.568G>A (p.Gly190Ser)
NM_001161352.2(KCNMA1):c.584A>C (p.Tyr195Ser)
NM_001161352.2(KCNMA1):c.589A>G (p.Ile197Val)
NM_001161352.2(KCNMA1):c.608T>C (p.Ile203Thr) rs2154127879
NM_001161352.2(KCNMA1):c.61A>G (p.Ser21Gly)
NM_001161352.2(KCNMA1):c.626T>C (p.Phe209Ser) rs1598200324
NM_001161352.2(KCNMA1):c.644T>C (p.Leu215Ser)
NM_001161352.2(KCNMA1):c.646C>G (p.Gln216Glu)
NM_001161352.2(KCNMA1):c.657G>A (p.Met219Ile) rs2098835683
NM_001161352.2(KCNMA1):c.659C>T (p.Ala220Val) rs7921386
NM_001161352.2(KCNMA1):c.688G>A (p.Gly230Ser)
NM_001161352.2(KCNMA1):c.68T>A (p.Leu23His)
NM_001161352.2(KCNMA1):c.694C>T (p.Arg232Trp)
NM_001161352.2(KCNMA1):c.700A>T (p.Ile234Phe) rs2154124891
NM_001161352.2(KCNMA1):c.712G>A (p.Asp238Asn)
NM_001161352.2(KCNMA1):c.733G>C (p.Glu245Gln)
NM_001161352.2(KCNMA1):c.741C>A (p.Asn247Lys) rs2098818815
NM_001161352.2(KCNMA1):c.761C>T (p.Thr254Met)
NM_001161352.2(KCNMA1):c.7A>G (p.Asn3Asp)
NM_001161352.2(KCNMA1):c.802T>C (p.Trp268Arg) rs2098818535
NM_001161352.2(KCNMA1):c.809G>A (p.Gly270Asp) rs1554841751
NM_001161352.2(KCNMA1):c.813G>C (p.Leu271Phe) rs2097580642
NM_001161352.2(KCNMA1):c.826G>C (p.Ala276Pro)
NM_001161352.2(KCNMA1):c.868A>C (p.Asn290His)
NM_001161352.2(KCNMA1):c.87C>G (p.Ile29Met)
NM_001161352.2(KCNMA1):c.884+6A>T rs2097580351
NM_001161352.2(KCNMA1):c.88C>T (p.His30Tyr)
NM_001161352.2(KCNMA1):c.8A>G (p.Asn3Ser)
NM_001161352.2(KCNMA1):c.91G>A (p.Ala31Thr)
NM_001161352.2(KCNMA1):c.91G>C (p.Ala31Pro)
NM_001161352.2(KCNMA1):c.91G>T (p.Ala31Ser) rs1343575385
NM_001161352.2(KCNMA1):c.960+5_960+8dup
NM_001161352.2(KCNMA1):c.97C>T (p.His33Tyr) rs2093891400

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