ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease IXd

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ClinVar version:
Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_002637.4(PHKA1):c.*553C>T rs782055740 0.00108
NM_002637.4(PHKA1):c.3068G>A (p.Ser1023Asn) rs782344973 0.00095
NM_002637.4(PHKA1):c.*1275A>G rs782306248 0.00069
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val) rs199608903 0.00039
NM_002637.4(PHKA1):c.868C>T (p.Arg290Cys) rs138752449 0.00036
NM_002637.4(PHKA1):c.2179C>T (p.Arg727Trp) rs151279562 0.00035
NM_002637.4(PHKA1):c.2756G>T (p.Arg919Leu) rs1349683999 0.00035
NM_002637.4(PHKA1):c.3511G>A (p.Ala1171Thr) rs144813238 0.00034
NM_002637.4(PHKA1):c.*1865G>T rs782659275 0.00027
NM_002637.4(PHKA1):c.890T>C (p.Leu297Pro) rs138195744 0.00026
NM_002637.4(PHKA1):c.*887A>G rs1473576299 0.00024
NM_002637.4(PHKA1):c.3443T>G (p.Ile1148Ser) rs782365144 0.00015
NM_002637.4(PHKA1):c.3350G>A (p.Arg1117His) rs143802511 0.00013
NM_002637.4(PHKA1):c.2483A>G (p.Tyr828Cys) rs144583035 0.00011
NM_002637.4(PHKA1):c.2063G>A (p.Arg688Gln) rs201234013 0.00010
NM_002637.4(PHKA1):c.*1303T>C rs782190105 0.00009
NM_002637.4(PHKA1):c.*674A>C rs1028190311 0.00009
NM_002637.4(PHKA1):c.1727C>A (p.Thr576Lys) rs1474761630 0.00009
NM_002637.4(PHKA1):c.2335C>A (p.Gln779Lys) rs144670958 0.00008
NM_002637.4(PHKA1):c.742C>T (p.Arg248Cys) rs1382212255 0.00008
NM_002637.4(PHKA1):c.1151A>G (p.Tyr384Cys) rs782509826 0.00007
NM_002637.4(PHKA1):c.1592A>T (p.Tyr531Phe) rs781878909 0.00007
NM_002637.4(PHKA1):c.1964G>A (p.Arg655His) rs782528091 0.00007
NM_002637.4(PHKA1):c.*1151C>T rs782605900 0.00006
NM_002637.4(PHKA1):c.1714G>A (p.Asp572Asn) rs113352627 0.00006
NM_002637.4(PHKA1):c.2339C>T (p.Ala780Val) rs782403774 0.00006
NM_002637.4(PHKA1):c.3149G>A (p.Arg1050His) rs782453258 0.00006
NM_002637.4(PHKA1):c.*467T>C rs970811941 0.00005
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln) rs202007590 0.00005
NM_002637.4(PHKA1):c.3570C>T (p.Asp1190=) rs1033726905 0.00005
NM_002637.4(PHKA1):c.*1797A>G rs1296603872 0.00004
NM_002637.4(PHKA1):c.1067A>G (p.Glu356Gly) rs782036622 0.00004
NM_002637.4(PHKA1):c.1366A>G (p.Lys456Glu) rs868916849 0.00004
NM_002637.4(PHKA1):c.751A>G (p.Thr251Ala) rs1318462080 0.00004
NM_002637.4(PHKA1):c.*2110A>G rs1380630404 0.00003
NM_002637.4(PHKA1):c.1297G>A (p.Val433Ile) rs369136290 0.00003
NM_002637.4(PHKA1):c.2006C>T (p.Ala669Val) rs1556276769 0.00003
NM_002637.4(PHKA1):c.2480G>A (p.Arg827Gln) rs370717042 0.00003
NM_002637.4(PHKA1):c.2725C>G (p.Pro909Ala) rs1179242925 0.00003
NM_002637.4(PHKA1):c.3371G>A (p.Arg1124His) rs782546754 0.00003
NM_002637.4(PHKA1):c.3436G>A (p.Gly1146Arg) rs782068991 0.00003
NM_002637.4(PHKA1):c.3631G>A (p.Val1211Met) rs1025423127 0.00003
NM_002637.4(PHKA1):c.1429C>T (p.Arg477Cys) rs1556296540 0.00002
NM_002637.4(PHKA1):c.1540C>T (p.Arg514Trp) rs181530232 0.00002
NM_002637.4(PHKA1):c.184C>T (p.Arg62Trp) rs781996165 0.00002
NM_002637.4(PHKA1):c.2916C>T (p.Ser972=) rs782102345 0.00002
NM_002637.4(PHKA1):c.3088A>G (p.Met1030Val) rs782360415 0.00002
NM_002637.4(PHKA1):c.3166C>T (p.Arg1056Cys) rs782514332 0.00002
NM_002637.4(PHKA1):c.3257C>A (p.Ser1086Tyr) rs375128462 0.00002
NM_002637.4(PHKA1):c.3297+5G>A rs781901953 0.00002
NM_002637.4(PHKA1):c.3622G>A (p.Ala1208Thr) rs782814716 0.00002
NM_002637.4(PHKA1):c.442A>G (p.Met148Val) rs781837256 0.00002
NM_002637.4(PHKA1):c.1136G>A (p.Arg379Lys) rs782491605 0.00001
NM_002637.4(PHKA1):c.1214C>T (p.Ser405Phe) rs199582889 0.00001
NM_002637.4(PHKA1):c.1318G>A (p.Val440Ile) rs782651487 0.00001
NM_002637.4(PHKA1):c.1348G>A (p.Glu450Lys) rs782310573 0.00001
NM_002637.4(PHKA1):c.1384G>A (p.Val462Met) rs782400389 0.00001
NM_002637.4(PHKA1):c.1459+4A>G rs1203297354 0.00001
NM_002637.4(PHKA1):c.1698C>A (p.Ile566=) rs369728544 0.00001
NM_002637.4(PHKA1):c.2404C>T (p.Arg802Trp) rs782789642 0.00001
NM_002637.4(PHKA1):c.2912G>A (p.Arg971Gln) rs782702439 0.00001
NM_002637.4(PHKA1):c.3034-6T>A rs199530028 0.00001
NM_002637.4(PHKA1):c.3043C>T (p.Arg1015Cys) rs782191011 0.00001
NM_002637.4(PHKA1):c.3170G>A (p.Arg1057Gln) rs184743934 0.00001
NM_002637.4(PHKA1):c.3250G>A (p.Gly1084Arg) rs1181595611 0.00001
NM_002637.4(PHKA1):c.3331G>A (p.Val1111Met) rs782099054 0.00001
NM_002637.4(PHKA1):c.3550A>G (p.Ile1184Val) rs1162142066 0.00001
NM_002637.4(PHKA1):c.3626C>T (p.Thr1209Ile) rs782528795 0.00001
NM_002637.4(PHKA1):c.44C>G (p.Ala15Gly) rs782659023 0.00001
NM_002637.4(PHKA1):c.835A>G (p.Thr279Ala) rs1185410324 0.00001
NC_000023.10:g.(?_71854985)_(71933728_?)dup
NC_000023.10:g.(?_71875950)_(71925114_?)dup
NM_002637.4(PHKA1):c.*2056T>A rs2052298372
NM_002637.4(PHKA1):c.*503C>T rs1433119416
NM_002637.4(PHKA1):c.*772C>T rs2052317488
NM_002637.4(PHKA1):c.1016G>A (p.Gly339Glu)
NM_002637.4(PHKA1):c.1057G>A (p.Glu353Lys)
NM_002637.4(PHKA1):c.1072G>C (p.Val358Leu)
NM_002637.4(PHKA1):c.1082A>G (p.Lys361Arg) rs2147761614
NM_002637.4(PHKA1):c.1100C>T (p.Pro367Leu)
NM_002637.4(PHKA1):c.1191A>T (p.Lys397Asn)
NM_002637.4(PHKA1):c.1222A>G (p.Ile408Val)
NM_002637.4(PHKA1):c.1222A>T (p.Ile408Phe) rs2147760351
NM_002637.4(PHKA1):c.1282C>T (p.Arg428Cys) rs2147757116
NM_002637.4(PHKA1):c.1316T>C (p.Val439Ala)
NM_002637.4(PHKA1):c.1361T>C (p.Ile454Thr)
NM_002637.4(PHKA1):c.1378A>G (p.Ile460Val)
NM_002637.4(PHKA1):c.1393A>G (p.Ile465Val)
NM_002637.4(PHKA1):c.1416A>C (p.Arg472Ser)
NM_002637.4(PHKA1):c.1459+6_1459+8del rs782679415
NM_002637.4(PHKA1):c.1460-12A>G
NM_002637.4(PHKA1):c.152T>C (p.Ile51Thr) rs2054403951
NM_002637.4(PHKA1):c.1549A>G (p.Ile517Val)
NM_002637.4(PHKA1):c.1592A>G (p.Tyr531Cys)
NM_002637.4(PHKA1):c.1623A>C (p.Glu541Asp)
NM_002637.4(PHKA1):c.1654A>G (p.Ser552Gly)
NM_002637.4(PHKA1):c.1657C>T (p.Arg553Cys)
NM_002637.4(PHKA1):c.1663C>T (p.Arg555Trp)
NM_002637.4(PHKA1):c.1664G>A (p.Arg555Gln)
NM_002637.4(PHKA1):c.1715-16T>C
NM_002637.4(PHKA1):c.1726A>G (p.Thr576Ala)
NM_002637.4(PHKA1):c.1745T>C (p.Ile582Thr)
NM_002637.4(PHKA1):c.1746C>G (p.Ile582Met)
NM_002637.4(PHKA1):c.1748T>C (p.Leu583Pro) rs2053084669
NM_002637.4(PHKA1):c.1754C>T (p.Ala585Val)
NM_002637.4(PHKA1):c.1760G>A (p.Arg587Gln)
NM_002637.4(PHKA1):c.1819T>C (p.Phe607Leu)
NM_002637.4(PHKA1):c.182A>G (p.Tyr61Cys) rs2054403362
NM_002637.4(PHKA1):c.184C>G (p.Arg62Gly)
NM_002637.4(PHKA1):c.1945G>C (p.Asp649His)
NM_002637.4(PHKA1):c.1946A>C (p.Asp649Ala)
NM_002637.4(PHKA1):c.1978G>A (p.Val660Ile)
NM_002637.4(PHKA1):c.199C>G (p.Arg67Gly)
NM_002637.4(PHKA1):c.2003T>C (p.Leu668Ser) rs2052967940
NM_002637.4(PHKA1):c.2006C>A (p.Ala669Glu)
NM_002637.4(PHKA1):c.2008C>T (p.His670Tyr)
NM_002637.4(PHKA1):c.2033C>A (p.Ala678Asp) rs1247275284
NM_002637.4(PHKA1):c.2035C>A (p.Pro679Thr)
NM_002637.4(PHKA1):c.2062C>T (p.Arg688Trp)
NM_002637.4(PHKA1):c.207G>C (p.Glu69Asp)
NM_002637.4(PHKA1):c.2092G>A (p.Asp698Asn) rs1064796509
NM_002637.4(PHKA1):c.2093A>T (p.Asp698Val)
NM_002637.4(PHKA1):c.2101_2106del (p.Ser701_Leu702del)
NM_002637.4(PHKA1):c.2102C>T (p.Ser701Phe)
NM_002637.4(PHKA1):c.2146A>G (p.Met716Val)
NM_002637.4(PHKA1):c.2171A>G (p.Gln724Arg)
NM_002637.4(PHKA1):c.2180G>A (p.Arg727Gln)
NM_002637.4(PHKA1):c.219G>T (p.Lys73Asn)
NM_002637.4(PHKA1):c.2200G>A (p.Asp734Asn)
NM_002637.4(PHKA1):c.2212C>A (p.Pro738Thr)
NM_002637.4(PHKA1):c.2216G>A (p.Arg739Gln)
NM_002637.4(PHKA1):c.2219A>G (p.Gln740Arg) rs2147705472
NM_002637.4(PHKA1):c.2243G>A (p.Arg748His) rs2147704831
NM_002637.4(PHKA1):c.2280G>C (p.Glu760Asp)
NM_002637.4(PHKA1):c.2369+12A>G
NM_002637.4(PHKA1):c.2370A>G (p.Lys790=)
NM_002637.4(PHKA1):c.2379C>A (p.Asp793Glu)
NM_002637.4(PHKA1):c.2384A>G (p.Asn795Ser)
NM_002637.4(PHKA1):c.2384A>T (p.Asn795Ile)
NM_002637.4(PHKA1):c.2393T>C (p.Leu798Ser)
NM_002637.4(PHKA1):c.2416G>C (p.Val806Leu)
NM_002637.4(PHKA1):c.2422G>A (p.Glu808Lys)
NM_002637.4(PHKA1):c.2461C>T (p.Arg821Cys)
NM_002637.4(PHKA1):c.2471G>A (p.Gly824Asp)
NM_002637.4(PHKA1):c.2513A>G (p.Glu838Gly)
NM_002637.4(PHKA1):c.2514A>C (p.Glu838Asp)
NM_002637.4(PHKA1):c.2526+5T>C rs1556259531
NM_002637.4(PHKA1):c.2526+6A>G
NM_002637.4(PHKA1):c.2546C>T (p.Ser849Phe)
NM_002637.4(PHKA1):c.2550C>G (p.His850Gln)
NM_002637.4(PHKA1):c.2558A>T (p.His853Leu)
NM_002637.4(PHKA1):c.2588G>A (p.Arg863Gln)
NM_002637.4(PHKA1):c.2599A>G (p.Ile867Val)
NM_002637.4(PHKA1):c.2603C>T (p.Ser868Phe)
NM_002637.4(PHKA1):c.2608C>T (p.Pro870Ser)
NM_002637.4(PHKA1):c.2615C>T (p.Pro872Leu)
NM_002637.4(PHKA1):c.2618A>G (p.Tyr873Cys)
NM_002637.4(PHKA1):c.2623G>A (p.Ala875Thr)
NM_002637.4(PHKA1):c.2657G>C (p.Gly886Ala)
NM_002637.4(PHKA1):c.2660A>T (p.Asp887Val)
NM_002637.4(PHKA1):c.2662A>G (p.Met888Val)
NM_002637.4(PHKA1):c.2689A>G (p.Ile897Val)
NM_002637.4(PHKA1):c.2708T>A (p.Met903Lys)
NM_002637.4(PHKA1):c.2715G>A (p.Met905Ile) rs1603254167
NM_002637.4(PHKA1):c.2750G>A (p.Arg917Gln)
NM_002637.4(PHKA1):c.2750G>T (p.Arg917Leu)
NM_002637.4(PHKA1):c.2756G>A (p.Arg919Gln)
NM_002637.4(PHKA1):c.275T>C (p.Met92Thr) rs2054264983
NM_002637.4(PHKA1):c.2780T>C (p.Met927Thr)
NM_002637.4(PHKA1):c.2839A>G (p.Met947Val)
NM_002637.4(PHKA1):c.285+5G>A
NM_002637.4(PHKA1):c.2890G>A (p.Gly964Ser)
NM_002637.4(PHKA1):c.2917G>A (p.Val973Ile)
NM_002637.4(PHKA1):c.2920C>T (p.Arg974Cys)
NM_002637.4(PHKA1):c.2938G>A (p.Val980Ile)
NM_002637.4(PHKA1):c.2957T>C (p.Ile986Thr)
NM_002637.4(PHKA1):c.2962G>A (p.Glu988Lys)
NM_002637.4(PHKA1):c.2965A>T (p.Ile989Phe)
NM_002637.4(PHKA1):c.2969G>A (p.Gly990Asp)
NM_002637.4(PHKA1):c.29G>A (p.Arg10Gln) rs1603278200
NM_002637.4(PHKA1):c.3036G>A (p.Val1012=) rs2147674398
NM_002637.4(PHKA1):c.3044G>A (p.Arg1015His)
NM_002637.4(PHKA1):c.3072+3G>A
NM_002637.4(PHKA1):c.3076C>T (p.Pro1026Ser)
NM_002637.4(PHKA1):c.3090G>T (p.Met1030Ile)
NM_002637.4(PHKA1):c.3101G>A (p.Ser1034Asn)
NM_002637.4(PHKA1):c.3103G>A (p.Gly1035Arg)
NM_002637.4(PHKA1):c.3116G>A (p.Ser1039Asn)
NM_002637.4(PHKA1):c.3119C>T (p.Ala1040Val)
NM_002637.4(PHKA1):c.3121T>C (p.Tyr1041His)
NM_002637.4(PHKA1):c.3143A>G (p.Asp1048Gly)
NM_002637.4(PHKA1):c.315T>G (p.Ser105Arg) rs2147825866
NM_002637.4(PHKA1):c.3223G>C (p.Val1075Leu)
NM_002637.4(PHKA1):c.3271G>T (p.Val1091Phe)
NM_002637.4(PHKA1):c.3304C>A (p.Pro1102Thr)
NM_002637.4(PHKA1):c.3356C>T (p.Pro1119Leu)
NM_002637.4(PHKA1):c.3407T>C (p.Met1136Thr) rs782034813
NM_002637.4(PHKA1):c.3439A>G (p.Ser1147Gly)
NM_002637.4(PHKA1):c.3485T>A (p.Phe1162Tyr)
NM_002637.4(PHKA1):c.3497A>T (p.Gln1166Leu)
NM_002637.4(PHKA1):c.3520A>G (p.Thr1174Ala)
NM_002637.4(PHKA1):c.3529G>A (p.Ala1177Thr) rs2052331052
NM_002637.4(PHKA1):c.3538C>A (p.Pro1180Thr)
NM_002637.4(PHKA1):c.3568G>C (p.Asp1190His) rs2147636584
NM_002637.4(PHKA1):c.3605A>T (p.Tyr1202Phe)
NM_002637.4(PHKA1):c.3611C>T (p.Ser1204Phe) rs2052328981
NM_002637.4(PHKA1):c.446C>T (p.Thr149Ile)
NM_002637.4(PHKA1):c.466A>G (p.Ile156Val)
NM_002637.4(PHKA1):c.484G>A (p.Val162Ile)
NM_002637.4(PHKA1):c.493A>G (p.Ile165Val) rs2053946596
NM_002637.4(PHKA1):c.521C>G (p.Ala174Gly) rs2053946293
NM_002637.4(PHKA1):c.537+5G>A
NM_002637.4(PHKA1):c.576A>C (p.Gln192His)
NM_002637.4(PHKA1):c.647A>G (p.Asp216Gly)
NM_002637.4(PHKA1):c.664G>T (p.Gly222Cys)
NM_002637.4(PHKA1):c.665G>T (p.Gly222Val)
NM_002637.4(PHKA1):c.686A>G (p.His229Arg)
NM_002637.4(PHKA1):c.711C>G (p.His237Gln)
NM_002637.4(PHKA1):c.719C>G (p.Ser240Cys)
NM_002637.4(PHKA1):c.723C>G (p.Ile241Met)
NM_002637.4(PHKA1):c.743G>A (p.Arg248His)
NM_002637.4(PHKA1):c.784G>A (p.Val262Met)
NM_002637.4(PHKA1):c.982T>C (p.Trp328Arg)

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