ClinVar Miner

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

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 339
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HGVS dbSNP gnomAD frequency
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850 0.00072
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly) rs147671523 0.00058
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_005327.7(HADH):c.-115del rs537335460 0.00053
NM_000208.4(INSR):c.2573C>T (p.Thr858Met) rs201466857 0.00048
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) rs78433961 0.00036
NM_000352.6(ABCC8):c.1923+3G>A rs374869130 0.00028
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val) rs139486832 0.00022
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) rs76077021 0.00021
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) rs56395521 0.00021
NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr) rs77131926 0.00020
NM_000352.6(ABCC8):c.2888A>G (p.Asp963Gly) rs538013271 0.00017
NM_000352.6(ABCC8):c.4412-14C>T rs193922404 0.00016
NM_000162.5(GCK):c.649G>A (p.Asp217Asn) rs147065275 0.00011
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790 0.00011
NM_000352.6(ABCC8):c.892C>T (p.Arg298Cys) rs144705160 0.00011
NM_000525.4(KCNJ11):c.302C>A (p.Ala101Asp) rs1014454531 0.00011
NM_000525.4(KCNJ11):c.941G>A (p.Arg314His) rs145935651 0.00011
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn) rs367974472 0.00010
NM_000525.4(KCNJ11):c.-54C>T rs1016780684 0.00010
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His) rs199763382 0.00009
NM_000525.4(KCNJ11):c.*218G>T rs886048039 0.00009
NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met) rs201351976 0.00008
NM_000352.6(ABCC8):c.375C>G (p.His125Gln) rs60637558 0.00008
NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn) rs781480098 0.00008
NM_000525.4(KCNJ11):c.1117G>A (p.Val373Met) rs770375846 0.00008
NM_000525.4(KCNJ11):c.934G>A (p.Gly312Ser) rs72554079 0.00008
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) rs369102740 0.00007
NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln) rs376080397 0.00007
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys) rs202189540 0.00006
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn) rs531684936 0.00006
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys) rs200563930 0.00006
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His) rs143557848 0.00006
NM_000352.6(ABCC8):c.647G>A (p.Arg216His) rs199702708 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000525.4(KCNJ11):c.1093C>T (p.Arg365Cys) rs758749160 0.00006
NM_000525.4(KCNJ11):c.86G>A (p.Arg29His) rs988002138 0.00006
NM_000208.4(INSR):c.1628C>T (p.Thr543Met) rs767160876 0.00005
NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp) rs200921389 0.00005
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr) rs761748692 0.00005
NM_000352.6(ABCC8):c.2870G>A (p.Arg957His) rs775921458 0.00005
NM_000352.6(ABCC8):c.3073G>A (p.Val1025Ile) rs771882862 0.00005
NM_000352.6(ABCC8):c.692G>C (p.Trp231Ser) rs1057517139 0.00005
NM_000162.5(GCK):c.646G>A (p.Glu216Lys) rs778550411 0.00004
NM_000162.5(GCK):c.836A>G (p.Glu279Gly) rs143484733 0.00004
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile) rs759961510 0.00004
NM_000352.6(ABCC8):c.3613G>A (p.Glu1205Lys) rs768448830 0.00004
NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His) rs372153432 0.00004
NM_000352.6(ABCC8):c.403C>G (p.Leu135Val) rs368450282 0.00004
NM_000352.6(ABCC8):c.4C>A (p.Pro2Thr) rs756552692 0.00004
NM_000162.5(GCK):c.142G>A (p.Glu48Lys) rs759514960 0.00003
NM_000162.5(GCK):c.301G>A (p.Val101Met) rs762922697 0.00003
NM_000352.6(ABCC8):c.1270G>A (p.Asp424Asn) rs577545383 0.00003
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln) rs1420601296 0.00003
NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser) rs191697443 0.00003
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr) rs766068851 0.00003
NM_000352.6(ABCC8):c.3308G>A (p.Arg1103Gln) rs765913448 0.00003
NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp) rs778892038 0.00003
NM_000352.6(ABCC8):c.822+3C>T rs370697909 0.00003
NM_000525.4(KCNJ11):c.47G>A (p.Arg16His) rs770609243 0.00003
NM_000525.4(KCNJ11):c.575G>A (p.Arg192His) rs750778014 0.00003
NM_000525.4(KCNJ11):c.853G>A (p.Val285Ile) rs149667199 0.00003
NM_000162.5(GCK):c.394G>A (p.Asp132Asn) rs762419802 0.00002
NM_000162.5(GCK):c.483+3G>A rs1311596702 0.00002
NM_000162.5(GCK):c.784G>A (p.Asp262Asn) rs779460424 0.00002
NM_000208.4(INSR):c.2121C>T (p.Gly707=) rs753257847 0.00002
NM_000208.4(INSR):c.3158G>A (p.Arg1053His) rs748109926 0.00002
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln) rs755707550 0.00002
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg) rs764349043 0.00002
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys) rs1331539684 0.00002
NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys) rs1254230359 0.00002
NM_000352.6(ABCC8):c.3293G>A (p.Arg1098His) rs1057523131 0.00002
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087 0.00002
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=) rs1345535328 0.00002
NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu) rs750165947 0.00002
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 0.00002
NM_000525.4(KCNJ11):c.292G>A (p.Gly98Ser) rs1554901851 0.00002
NM_000525.4(KCNJ11):c.353C>T (p.Ser118Leu) rs756424776 0.00002
NC_000011.10:g.17476966G>C rs1395224084 0.00001
NM_000162.5(GCK):c.107G>A (p.Arg36Gln) rs193922261 0.00001
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 0.00001
NM_000162.5(GCK):c.415A>T (p.Met139Leu) rs368137186 0.00001
NM_000162.5(GCK):c.609G>A (p.Val203=) rs776703291 0.00001
NM_000162.5(GCK):c.716A>G (p.Gln239Arg) rs764146649 0.00001
NM_000162.5(GCK):c.951C>G (p.His317Gln) rs1379908545 0.00001
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln) rs777565396 0.00001
NM_000352.6(ABCC8):c.1412C>T (p.Ala471Val) rs780283224 0.00001
NM_000352.6(ABCC8):c.1531C>G (p.Leu511Val) rs773345085 0.00001
NM_000352.6(ABCC8):c.1666C>T (p.Leu556Phe) rs1362268812 0.00001
NM_000352.6(ABCC8):c.1942C>T (p.Arg648Cys) rs373175144 0.00001
NM_000352.6(ABCC8):c.1973G>T (p.Gly658Val) rs149400972 0.00001
NM_000352.6(ABCC8):c.2209G>A (p.Val737Ile) rs376206979 0.00001
NM_000352.6(ABCC8):c.2270C>G (p.Thr757Arg) rs757961130 0.00001
NM_000352.6(ABCC8):c.2403C>A (p.Val801=) rs148863748 0.00001
NM_000352.6(ABCC8):c.255G>A (p.Leu85=) rs1323334420 0.00001
NM_000352.6(ABCC8):c.2751G>A (p.Gln917=) rs769982482 0.00001
NM_000352.6(ABCC8):c.2753G>A (p.Arg918Lys) rs748585974 0.00001
NM_000352.6(ABCC8):c.2798G>A (p.Arg933Gln) rs745591375 0.00001
NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn) rs767123465 0.00001
NM_000352.6(ABCC8):c.3493G>A (p.Val1165Met) rs769818698 0.00001
NM_000352.6(ABCC8):c.3658G>A (p.Ala1220Thr) rs1320499455 0.00001
NM_000352.6(ABCC8):c.371A>T (p.Tyr124Phe) rs1278920115 0.00001
NM_000352.6(ABCC8):c.4060G>A (p.Asp1354Asn) rs1199684247 0.00001
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) rs137852673 0.00001
NM_000352.6(ABCC8):c.4141G>A (p.Gly1381Ser) rs773448052 0.00001
NM_000352.6(ABCC8):c.4267A>G (p.Ile1423Val) rs748831440 0.00001
NM_000352.6(ABCC8):c.4285G>A (p.Val1429Ile) rs755577144 0.00001
NM_000352.6(ABCC8):c.4342A>G (p.Ser1448Gly) rs374703754 0.00001
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile) rs768017509 0.00001
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) rs148529020 0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg) rs1201126343 0.00001
NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly) rs138125678 0.00001
NM_000525.4(KCNJ11):c.1044G>C (p.Gln348His) rs745379486 0.00001
NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu) rs114613745 0.00001
NM_000525.4(KCNJ11):c.411G>A (p.Met137Ile) rs371977895 0.00001
NM_000525.4(KCNJ11):c.463G>A (p.Val155Met) rs587783668 0.00001
NM_000525.4(KCNJ11):c.527G>A (p.Arg176His) rs1266231295 0.00001
NM_000525.4(KCNJ11):c.83C>T (p.Ala28Val) rs754683593 0.00001
NM_000162.5(GCK):c.*12G>A
NM_000162.5(GCK):c.1006T>A (p.Ser336Thr)
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) rs1000236360
NM_000162.5(GCK):c.1024A>T (p.Thr342Ser)
NM_000162.5(GCK):c.1045T>A (p.Tyr349Asn)
NM_000162.5(GCK):c.1058G>A (p.Ser353Asn)
NM_000162.5(GCK):c.1102C>T (p.Arg368Cys)
NM_000162.5(GCK):c.1230C>T (p.Gly410=)
NM_000162.5(GCK):c.1253+3G>T rs911506580
NM_000162.5(GCK):c.1253+5G>T
NM_000162.5(GCK):c.1253+6C>T
NM_000162.5(GCK):c.1274C>A (p.Ala425Asp)
NM_000162.5(GCK):c.12_13del (p.Asp4fs)
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile) rs1185622190
NM_000162.5(GCK):c.237G>A (p.Leu79=)
NM_000162.5(GCK):c.28G>A (p.Ala10Thr)
NM_000162.5(GCK):c.315C>A (p.His105Gln)
NM_000162.5(GCK):c.343A>G (p.Met115Val)
NM_000162.5(GCK):c.364-14C>T
NM_000162.5(GCK):c.46-3C>T
NM_000162.5(GCK):c.483+13G>A
NM_000162.5(GCK):c.49G>C (p.Glu17Gln)
NM_000162.5(GCK):c.53A>G (p.Gln18Arg)
NM_000162.5(GCK):c.907C>A (p.Arg303=)
NM_000162.5(GCK):c.917T>G (p.Leu306Arg) rs193922337
NM_000162.5(GCK):c.954G>T (p.Gly318=)
NM_000162.5(GCK):c.988T>G (p.Phe330Val)
NM_000162.5(GCK):c.996_997delinsTT (p.Arg333Cys)
NM_000208.4(INSR):c.1266T>C (p.Ile422=)
NM_000208.4(INSR):c.2107G>A (p.Glu703Lys)
NM_000208.4(INSR):c.2408A>G (p.Asn803Ser)
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr) rs775854644
NM_000208.4(INSR):c.359T>C (p.Leu120Pro)
NM_000352.6(ABCC8):c.1011+17del
NM_000352.6(ABCC8):c.1024G>A (p.Gly342Arg) rs763028380
NM_000352.6(ABCC8):c.1064C>A (p.Ala355Asp)
NM_000352.6(ABCC8):c.1069G>A (p.Val357Ile)
NM_000352.6(ABCC8):c.1123G>A (p.Ala375Thr)
NM_000352.6(ABCC8):c.1265C>T (p.Ala422Val)
NM_000352.6(ABCC8):c.1268T>C (p.Ile423Thr)
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=) rs370169777
NM_000352.6(ABCC8):c.1287G>A (p.Met429Ile)
NM_000352.6(ABCC8):c.1343G>C (p.Gly448Ala)
NM_000352.6(ABCC8):c.1396G>A (p.Val466Ile)
NM_000352.6(ABCC8):c.13T>G (p.Phe5Val)
NM_000352.6(ABCC8):c.1429G>A (p.Val477Met)
NM_000352.6(ABCC8):c.1468-14G>A
NM_000352.6(ABCC8):c.154G>A (p.Gly52Arg)
NM_000352.6(ABCC8):c.1555C>T (p.Arg519Cys)
NM_000352.6(ABCC8):c.1570A>G (p.Thr524Ala)
NM_000352.6(ABCC8):c.1577G>A (p.Arg526His)
NM_000352.6(ABCC8):c.1682G>A (p.Gly561Asp)
NM_000352.6(ABCC8):c.1687G>A (p.Val563Ile) rs1554926621
NM_000352.6(ABCC8):c.1717C>T (p.Pro573Ser)
NM_000352.6(ABCC8):c.171G>C (p.Lys57Asn)
NM_000352.6(ABCC8):c.1741T>A (p.Ser581Thr)
NM_000352.6(ABCC8):c.1766C>T (p.Pro589Leu) rs1955814875
NM_000352.6(ABCC8):c.1813G>A (p.Val605Met)
NM_000352.6(ABCC8):c.1900C>G (p.Pro634Ala)
NM_000352.6(ABCC8):c.1924-18C>A
NM_000352.6(ABCC8):c.1957C>T (p.Arg653Trp)
NM_000352.6(ABCC8):c.1962G>C (p.Glu654Asp)
NM_000352.6(ABCC8):c.2017G>A (p.Asp673Asn)
NM_000352.6(ABCC8):c.2030G>A (p.Cys677Tyr)
NM_000352.6(ABCC8):c.2041-12C>A rs201419039
NM_000352.6(ABCC8):c.2054A>G (p.Tyr685Cys)
NM_000352.6(ABCC8):c.2073T>A (p.Asp691Glu)
NM_000352.6(ABCC8):c.2114G>A (p.Arg705Gln)
NM_000352.6(ABCC8):c.2135T>C (p.Val712Ala)
NM_000352.6(ABCC8):c.2152G>A (p.Gly718Ser)
NM_000352.6(ABCC8):c.2164C>T (p.Leu722Phe)
NM_000352.6(ABCC8):c.2176G>T (p.Ala726Ser)
NM_000352.6(ABCC8):c.2191C>G (p.Gln731Glu)
NM_000352.6(ABCC8):c.2222+15C>A rs377174421
NM_000352.6(ABCC8):c.2256C>T (p.Ser752=)
NM_000352.6(ABCC8):c.2278G>A (p.Asp760Asn)
NM_000352.6(ABCC8):c.2305G>A (p.Val769Met)
NM_000352.6(ABCC8):c.2309C>G (p.Ala770Gly)
NM_000352.6(ABCC8):c.2389C>G (p.Arg797Gly)
NM_000352.6(ABCC8):c.2391-5G>T
NM_000352.6(ABCC8):c.2391-9C>A
NM_000352.6(ABCC8):c.2434G>A (p.Asp812Asn)
NM_000352.6(ABCC8):c.2449G>A (p.Gly817Arg)
NM_000352.6(ABCC8):c.2465T>C (p.Ile822Thr)
NM_000352.6(ABCC8):c.2543A>G (p.Asn848Ser)
NM_000352.6(ABCC8):c.2572G>A (p.Ala858Thr)
NM_000352.6(ABCC8):c.2630G>A (p.Arg877Gln)
NM_000352.6(ABCC8):c.2680C>T (p.Pro894Ser)
NM_000352.6(ABCC8):c.2706G>A (p.Met902Ile)
NM_000352.6(ABCC8):c.278T>C (p.Ile93Thr)
NM_000352.6(ABCC8):c.2854C>T (p.Pro952Ser)
NM_000352.6(ABCC8):c.2858A>C (p.Gln953Pro) rs761960758
NM_000352.6(ABCC8):c.2869C>G (p.Arg957Gly) rs761160857
NM_000352.6(ABCC8):c.2869C>T (p.Arg957Cys)
NM_000352.6(ABCC8):c.2894T>C (p.Leu965Pro)
NM_000352.6(ABCC8):c.291-5C>T rs2133711631
NM_000352.6(ABCC8):c.291G>A (p.Gly97=)
NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr) rs568576108
NM_000352.6(ABCC8):c.2929G>C (p.Ala977Pro)
NM_000352.6(ABCC8):c.2957C>T (p.Ser986Leu)
NM_000352.6(ABCC8):c.2960C>T (p.Ser987Phe)
NM_000352.6(ABCC8):c.2969A>C (p.His990Pro)
NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro) rs201499958
NM_000352.6(ABCC8):c.2980G>A (p.Glu994Lys)
NM_000352.6(ABCC8):c.298G>A (p.Glu100Lys)
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro) rs776248166
NM_000352.6(ABCC8):c.3001G>A (p.Ala1001Thr)
NM_000352.6(ABCC8):c.3014C>T (p.Ser1005Phe)
NM_000352.6(ABCC8):c.3019G>C (p.Ala1007Pro)
NM_000352.6(ABCC8):c.302C>T (p.Ser101Phe)
NM_000352.6(ABCC8):c.3117C>A (p.Ser1039Arg)
NM_000352.6(ABCC8):c.3170C>A (p.Thr1057Asn)
NM_000352.6(ABCC8):c.3188A>G (p.Tyr1063Cys)
NM_000352.6(ABCC8):c.3238G>A (p.Val1080Ile)
NM_000352.6(ABCC8):c.3327G>C (p.Met1109Ile)
NM_000352.6(ABCC8):c.3330-5C>T
NM_000352.6(ABCC8):c.3330G>A (p.Arg1110=)
NM_000352.6(ABCC8):c.3335T>C (p.Phe1112Ser)
NM_000352.6(ABCC8):c.3455C>A (p.Ala1152Asp) rs1354859002
NM_000352.6(ABCC8):c.3457C>A (p.Leu1153Met)
NM_000352.6(ABCC8):c.3484G>A (p.Val1162Met)
NM_000352.6(ABCC8):c.3515T>A (p.Ile1172Asn)
NM_000352.6(ABCC8):c.3589C>G (p.Leu1197Val)
NM_000352.6(ABCC8):c.3623_3625del (p.Glu1208del)
NM_000352.6(ABCC8):c.3649A>G (p.Arg1217Gly) rs770028071
NM_000352.6(ABCC8):c.3662G>A (p.Arg1221Gln)
NM_000352.6(ABCC8):c.3665T>C (p.Phe1222Ser)
NM_000352.6(ABCC8):c.3682G>A (p.Glu1228Lys)
NM_000352.6(ABCC8):c.3775G>A (p.Val1259Met)
NM_000352.6(ABCC8):c.3777G>T (p.Val1259=)
NM_000352.6(ABCC8):c.3799A>G (p.Ile1267Val)
NM_000352.6(ABCC8):c.3837G>A (p.Leu1279=)
NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser) rs763104338
NM_000352.6(ABCC8):c.3893T>A (p.Val1298Glu)
NM_000352.6(ABCC8):c.389C>G (p.Ser130Cys)
NM_000352.6(ABCC8):c.3928G>T (p.Ala1310Ser)
NM_000352.6(ABCC8):c.392A>C (p.Asn131Thr)
NM_000352.6(ABCC8):c.3988+19G>C rs576340695
NM_000352.6(ABCC8):c.3988+9C>G
NM_000352.6(ABCC8):c.3988G>T (p.Ala1330Ser)
NM_000352.6(ABCC8):c.3989-14A>G
NM_000352.6(ABCC8):c.3989-28_3989-11del
NM_000352.6(ABCC8):c.4028A>T (p.Lys1343Met) rs886039301
NM_000352.6(ABCC8):c.4034A>G (p.Gln1345Arg)
NM_000352.6(ABCC8):c.4089C>G (p.His1363Gln)
NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe) rs138642224
NM_000352.6(ABCC8):c.4105G>A (p.Ala1369Thr)
NM_000352.6(ABCC8):c.413-5G>A rs186946111
NM_000352.6(ABCC8):c.4140C>A (p.Thr1380=)
NM_000352.6(ABCC8):c.4198+3G>T
NM_000352.6(ABCC8):c.4207A>G (p.Ile1403Val)
NM_000352.6(ABCC8):c.4228G>A (p.Ala1410Thr)
NM_000352.6(ABCC8):c.4326G>C (p.Glu1442Asp)
NM_000352.6(ABCC8):c.4345A>C (p.Thr1449Pro)
NM_000352.6(ABCC8):c.4357G>A (p.Ala1453Thr)
NM_000352.6(ABCC8):c.4411+18T>G
NM_000352.6(ABCC8):c.443T>C (p.Ile148Thr)
NM_000352.6(ABCC8):c.4456A>G (p.Arg1486Gly)
NM_000352.6(ABCC8):c.4498A>G (p.Ser1500Gly)
NM_000352.6(ABCC8):c.4601C>A (p.Thr1534Asn)
NM_000352.6(ABCC8):c.4657C>T (p.Arg1553Trp)
NM_000352.6(ABCC8):c.4702C>T (p.Arg1568Trp)
NM_000352.6(ABCC8):c.643G>T (p.Val215Leu)
NM_000352.6(ABCC8):c.664G>A (p.Val222Met)
NM_000352.6(ABCC8):c.703G>A (p.Ala235Thr)
NM_000352.6(ABCC8):c.713A>G (p.Lys238Arg)
NM_000352.6(ABCC8):c.73G>A (p.Gly25Ser)
NM_000352.6(ABCC8):c.743G>A (p.Arg248Gln)
NM_000352.6(ABCC8):c.752G>A (p.Gly251Glu)
NM_000352.6(ABCC8):c.752G>T (p.Gly251Val)
NM_000352.6(ABCC8):c.763A>G (p.Ile255Val)
NM_000352.6(ABCC8):c.7C>G (p.Leu3Val)
NM_000352.6(ABCC8):c.806C>A (p.Ala269Asp) rs372930264
NM_000352.6(ABCC8):c.814G>A (p.Ala272Thr)
NM_000352.6(ABCC8):c.823C>T (p.Arg275Trp)
NM_000352.6(ABCC8):c.868G>C (p.Ala290Pro)
NM_000352.6(ABCC8):c.874A>G (p.Ser292Gly)
NM_000352.6(ABCC8):c.878A>G (p.His293Arg) rs587783175
NM_000352.6(ABCC8):c.916C>A (p.Arg306Ser) rs751228166
NM_000352.6(ABCC8):c.97G>T (p.Val33Leu) rs768372267
NM_000352.6(ABCC8):c.984G>T (p.Gly328=)
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys) rs1440128889
NM_000525.4(KCNJ11):c.-150G>A rs886048043
NM_000525.4(KCNJ11):c.1033A>G (p.Thr345Ala)
NM_000525.4(KCNJ11):c.1060A>G (p.Ser354Gly)
NM_000525.4(KCNJ11):c.1096G>A (p.Gly366Arg)
NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys) rs543286136
NM_000525.4(KCNJ11):c.1105C>A (p.Arg369Ser)
NM_000525.4(KCNJ11):c.110C>G (p.Ser37Cys)
NM_000525.4(KCNJ11):c.1121C>G (p.Pro374Arg)
NM_000525.4(KCNJ11):c.190G>T (p.Val64Leu)
NM_000525.4(KCNJ11):c.212C>T (p.Thr71Ile)
NM_000525.4(KCNJ11):c.224T>A (p.Phe75Tyr)
NM_000525.4(KCNJ11):c.293G>A (p.Gly98Asp)
NM_000525.4(KCNJ11):c.325C>T (p.Pro109Ser)
NM_000525.4(KCNJ11):c.344A>G (p.His115Arg)
NM_000525.4(KCNJ11):c.430C>G (p.Leu144Val)
NM_000525.4(KCNJ11):c.433G>T (p.Ala145Ser)
NM_000525.4(KCNJ11):c.46C>T (p.Arg16Cys)
NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr)
NM_000525.4(KCNJ11):c.628A>G (p.Ile210Val)
NM_000525.4(KCNJ11):c.62C>T (p.Pro21Leu)
NM_000525.4(KCNJ11):c.635G>A (p.Ser212Asn)
NM_000525.4(KCNJ11):c.655G>T (p.Val219Leu)
NM_000525.4(KCNJ11):c.65C>T (p.Ala22Val)
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His) rs768909861
NM_000525.4(KCNJ11):c.719T>C (p.Met240Thr)
NM_000525.4(KCNJ11):c.730G>A (p.Val244Met)
NM_000525.4(KCNJ11):c.733G>T (p.Gly245Cys)
NM_000525.4(KCNJ11):c.758C>T (p.Ala253Val)
NM_000525.4(KCNJ11):c.814C>T (p.Pro272Ser)
NM_000525.4(KCNJ11):c.817A>G (p.Ser273Gly)
NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile) rs761575495
NM_000525.4(KCNJ11):c.943T>G (p.Phe315Val)
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser) rs550315112
NM_000525.4(KCNJ11):c.973C>T (p.Arg325Cys)
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)

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