ClinVar Miner

List of variants reported as likely benign for Glycogen storage disease IXd by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_002637.4(PHKA1):c.1141G>A (p.Asp381Asn) rs141251024 0.00059
NM_002637.4(PHKA1):c.2112C>T (p.Thr704=) rs782437467 0.00014
NM_002637.4(PHKA1):c.1309G>A (p.Asp437Asn) rs782063260 0.00013
NM_002637.4(PHKA1):c.2370-19C>T rs376822361 0.00012
NM_002637.4(PHKA1):c.2405G>A (p.Arg802Gln) rs782159405 0.00011
NM_002637.4(PHKA1):c.778C>T (p.Leu260Phe) rs781803498 0.00010
NM_002637.4(PHKA1):c.1998C>T (p.His666=) rs368673487 0.00008
NM_002637.4(PHKA1):c.2160G>A (p.Thr720=) rs368071005 0.00008
NM_002637.4(PHKA1):c.538-20T>C rs782786358 0.00008
NM_002637.4(PHKA1):c.3034-15C>T rs1191413387 0.00006
NM_002637.4(PHKA1):c.3570C>T (p.Asp1190=) rs1033726905 0.00005
NM_002637.4(PHKA1):c.1794-7T>A rs376754554 0.00004
NM_002637.4(PHKA1):c.2230-20C>T rs374639781 0.00004
NM_002637.4(PHKA1):c.2403A>G (p.Glu801=) rs782389254 0.00003
NM_002637.4(PHKA1):c.2578C>T (p.Pro860Ser) rs781963831 0.00003
NM_002637.4(PHKA1):c.430T>G (p.Phe144Val) rs782285281 0.00003
NM_002637.4(PHKA1):c.1311T>C (p.Asp437=) rs782496296 0.00002
NM_002637.4(PHKA1):c.1383C>T (p.Tyr461=) rs1057522310 0.00002
NM_002637.4(PHKA1):c.1428T>A (p.Ala476=) rs1259412573 0.00002
NM_002637.4(PHKA1):c.2137+12C>T rs782222298 0.00002
NM_002637.4(PHKA1):c.2607-5C>T rs375770238 0.00002
NM_002637.4(PHKA1):c.3288C>T (p.Thr1096=) rs782626114 0.00002
NM_002637.4(PHKA1):c.478G>A (p.Asp160Asn) rs201601894 0.00002
NM_002637.4(PHKA1):c.1137+12A>G rs1556299862 0.00001
NM_002637.4(PHKA1):c.1698C>A (p.Ile566=) rs369728544 0.00001
NM_002637.4(PHKA1):c.2088C>T (p.Thr696=) rs1556276493 0.00001
NM_002637.4(PHKA1):c.2190C>T (p.Phe730=) rs1228510553 0.00001
NM_002637.4(PHKA1):c.2625G>A (p.Ala875=) rs781930090 0.00001
NM_002637.4(PHKA1):c.2763T>A (p.Gly921=) rs541124093 0.00001
NM_002637.4(PHKA1):c.3144T>C (p.Asp1048=) rs1556228374 0.00001
NM_002637.4(PHKA1):c.855C>T (p.Thr285=) rs1004871695 0.00001
NM_002637.4(PHKA1):c.1041+19A>T
NM_002637.4(PHKA1):c.1041+20G>A
NM_002637.4(PHKA1):c.1092T>C (p.Asn364=)
NM_002637.4(PHKA1):c.1137+13G>A
NM_002637.4(PHKA1):c.1137+17C>T
NM_002637.4(PHKA1):c.1138-20C>T
NM_002637.4(PHKA1):c.1176A>C (p.Arg392=)
NM_002637.4(PHKA1):c.1245+20C>A
NM_002637.4(PHKA1):c.126T>C (p.Ala42=)
NM_002637.4(PHKA1):c.1275C>T (p.Pro425=)
NM_002637.4(PHKA1):c.1276C>T (p.Leu426=)
NM_002637.4(PHKA1):c.1285A>C (p.Arg429=)
NM_002637.4(PHKA1):c.1296T>A (p.Thr432=)
NM_002637.4(PHKA1):c.1308C>T (p.Pro436=)
NM_002637.4(PHKA1):c.1325-5T>C
NM_002637.4(PHKA1):c.1431T>A (p.Arg477=)
NM_002637.4(PHKA1):c.1459+19C>T
NM_002637.4(PHKA1):c.1460-15T>A
NM_002637.4(PHKA1):c.1460-15T>C
NM_002637.4(PHKA1):c.1460-17T>C
NM_002637.4(PHKA1):c.1536C>T (p.Asp512=)
NM_002637.4(PHKA1):c.1569+16T>A
NM_002637.4(PHKA1):c.1569+19A>G
NM_002637.4(PHKA1):c.169T>C (p.Leu57=)
NM_002637.4(PHKA1):c.1749G>C (p.Leu583=)
NM_002637.4(PHKA1):c.174C>T (p.Gly58=)
NM_002637.4(PHKA1):c.1776G>T (p.Gly592=)
NM_002637.4(PHKA1):c.1793+14A>G
NM_002637.4(PHKA1):c.1793+18A>G
NM_002637.4(PHKA1):c.1961-14C>G
NM_002637.4(PHKA1):c.198C>T (p.Asp66=)
NM_002637.4(PHKA1):c.2007G>A (p.Ala669=)
NM_002637.4(PHKA1):c.2019C>G (p.Pro673=)
NM_002637.4(PHKA1):c.2137+13G>A
NM_002637.4(PHKA1):c.2138-16T>C
NM_002637.4(PHKA1):c.2138-5T>C
NM_002637.4(PHKA1):c.2229+15G>A
NM_002637.4(PHKA1):c.2230-18T>C
NM_002637.4(PHKA1):c.229T>C (p.Leu77=) rs2054402218
NM_002637.4(PHKA1):c.2369+17A>G
NM_002637.4(PHKA1):c.237+16A>G
NM_002637.4(PHKA1):c.2370-13G>A
NM_002637.4(PHKA1):c.238-14A>C
NM_002637.4(PHKA1):c.2439G>C (p.Leu813=) rs2052803141
NM_002637.4(PHKA1):c.2527-12A>G
NM_002637.4(PHKA1):c.2606+7A>G
NM_002637.4(PHKA1):c.2607-15T>G rs2147681346
NM_002637.4(PHKA1):c.2607-7T>C
NM_002637.4(PHKA1):c.2613G>A (p.Leu871=)
NM_002637.4(PHKA1):c.2667C>T (p.Ser889=)
NM_002637.4(PHKA1):c.2685+13G>A
NM_002637.4(PHKA1):c.2685+17A>G
NM_002637.4(PHKA1):c.2685+8_2685+10del rs782176924
NM_002637.4(PHKA1):c.2697A>G (p.Val899=)
NM_002637.4(PHKA1):c.2739T>G (p.Ala913=)
NM_002637.4(PHKA1):c.2751A>T (p.Arg917=)
NM_002637.4(PHKA1):c.280A>C (p.Arg94=)
NM_002637.4(PHKA1):c.2815+15A>G
NM_002637.4(PHKA1):c.285+7T>C
NM_002637.4(PHKA1):c.2856G>A (p.Ser952=) rs782602098
NM_002637.4(PHKA1):c.286-9T>C
NM_002637.4(PHKA1):c.3006C>A (p.Ile1002=)
NM_002637.4(PHKA1):c.3024G>A (p.Glu1008=)
NM_002637.4(PHKA1):c.303C>T (p.Ser101=)
NM_002637.4(PHKA1):c.3042T>C (p.Phe1014=) rs2147674384
NM_002637.4(PHKA1):c.3081A>T (p.Gly1027=)
NM_002637.4(PHKA1):c.3120A>G (p.Ala1040=)
NM_002637.4(PHKA1):c.3243+7A>G
NM_002637.4(PHKA1):c.3244-19T>C
NM_002637.4(PHKA1):c.3244-29_3244-15del
NM_002637.4(PHKA1):c.3255T>G (p.Leu1085=)
NM_002637.4(PHKA1):c.3297+11C>G
NM_002637.4(PHKA1):c.3298-7A>G
NM_002637.4(PHKA1):c.3366G>A (p.Glu1122=)
NM_002637.4(PHKA1):c.3444C>A (p.Ile1148=)
NM_002637.4(PHKA1):c.3474C>T (p.Ala1158=)
NM_002637.4(PHKA1):c.3501A>G (p.Lys1167=) rs782682520
NM_002637.4(PHKA1):c.3510C>T (p.Gly1170=)
NM_002637.4(PHKA1):c.3526T>C (p.Leu1176=)
NM_002637.4(PHKA1):c.3621C>T (p.Ala1207=)
NM_002637.4(PHKA1):c.3630C>T (p.Tyr1210=)
NM_002637.4(PHKA1):c.3657C>T (p.Ile1219=)
NM_002637.4(PHKA1):c.384T>C (p.Asp128=)
NM_002637.4(PHKA1):c.387A>G (p.Gln129=)
NM_002637.4(PHKA1):c.426G>A (p.Leu142=)
NM_002637.4(PHKA1):c.454+12G>A
NM_002637.4(PHKA1):c.455-5C>T
NM_002637.4(PHKA1):c.534T>G (p.Thr178=)
NM_002637.4(PHKA1):c.538-19A>G
NM_002637.4(PHKA1):c.543C>T (p.Phe181=)
NM_002637.4(PHKA1):c.618+16T>G
NM_002637.4(PHKA1):c.663A>G (p.Lys221=)
NM_002637.4(PHKA1):c.691C>T (p.Leu231=)
NM_002637.4(PHKA1):c.6G>A (p.Arg2=)
NM_002637.4(PHKA1):c.718-9T>C
NM_002637.4(PHKA1):c.732A>C (p.Ser244=)
NM_002637.4(PHKA1):c.777A>G (p.Leu259=) rs1015048037
NM_002637.4(PHKA1):c.78+15G>A
NM_002637.4(PHKA1):c.78+16TC[2] rs781902933
NM_002637.4(PHKA1):c.864+12T>A
NM_002637.4(PHKA1):c.900A>G (p.Gly300=)
NM_002637.4(PHKA1):c.919-17T>C
NM_002637.4(PHKA1):c.975G>A (p.Glu325=)

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