List of variants reported as likely benign for Muscle AMP deaminase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 137

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HGVS	dbSNP	gnomAD frequency
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile)	rs61752478	0.00384
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp)	rs35859650	0.00208
NM_000036.3(AMPD1):c.334G>A (p.Val112Met)	rs61741025	0.00162
NM_000036.3(AMPD1):c.381+1G>C	rs143303736	0.00125
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp)	rs61758863	0.00124
NM_000036.3(AMPD1):c.512G>A (p.Gly171Asp)	rs142582318	0.00093
NM_000036.3(AMPD1):c.767+18C>A	rs146422068	0.00084
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu)	rs150645738	0.00070
NM_000036.3(AMPD1):c.216-9C>T	rs570832252	0.00040
NM_000036.3(AMPD1):c.1975-12A>T	rs189530823	0.00036
NM_000036.3(AMPD1):c.1819T>C (p.Leu607=)	rs141900642	0.00025
NM_000036.3(AMPD1):c.22+15T>A	rs371487865	0.00022
NM_000036.3(AMPD1):c.1800+16T>C	rs374741261	0.00019
NM_000036.3(AMPD1):c.1974+9T>C	rs368331901	0.00009
NC_000001.11:g.114695547A>G	rs377496676	0.00008
NM_000036.3(AMPD1):c.577G>A (p.Asp193Asn)	rs376789465	0.00007
NM_000036.3(AMPD1):c.1092+12C>T	rs532506042	0.00006
NM_000036.3(AMPD1):c.1389-16T>A	rs778223264	0.00006
NM_000036.3(AMPD1):c.990G>T (p.Val330=)	rs754808704	0.00005
NM_000036.3(AMPD1):c.1174T>C (p.Leu392=)	rs369767517	0.00004
NM_000036.3(AMPD1):c.1473C>T (p.Ile491=)	rs145557954	0.00004
NM_000036.3(AMPD1):c.504C>T (p.Asn168=)	rs374681411	0.00004
NM_000036.3(AMPD1):c.636C>T (p.Asp212=)	rs181412206	0.00004
NM_000036.3(AMPD1):c.1236G>A (p.Ala412=)	rs141829342	0.00003
NM_000036.3(AMPD1):c.1800+15C>G	rs570359428	0.00003
NM_000036.3(AMPD1):c.801C>G (p.Leu267=)	rs536037850	0.00003
NM_000036.3(AMPD1):c.144G>A (p.Pro48=)	rs145786786	0.00002
NM_000036.3(AMPD1):c.2086-11T>C	rs571218978	0.00002
NM_000036.3(AMPD1):c.216-8G>A	rs762655218	0.00002
NM_000036.3(AMPD1):c.906C>T (p.Thr302=)	rs1013897127	0.00002
NM_000036.3(AMPD1):c.1225-12T>C	rs762334770	0.00001
NM_000036.3(AMPD1):c.1388+10T>C	rs760486294	0.00001
NM_000036.3(AMPD1):c.1662G>T (p.Val554=)	rs780245321	0.00001
NM_000036.3(AMPD1):c.1680-20T>C	rs771812174	0.00001
NM_000036.3(AMPD1):c.1743T>C (p.His581=)	rs768544368	0.00001
NM_000036.3(AMPD1):c.180T>C (p.His60=)	rs897295422	0.00001
NM_000036.3(AMPD1):c.1971C>G (p.Thr657=)	rs756521034	0.00001
NM_000036.3(AMPD1):c.2086-19C>T	rs1335023656	0.00001
NM_000036.3(AMPD1):c.215+8G>A	rs781556684	0.00001
NM_000036.3(AMPD1):c.216-5C>T	rs553915536	0.00001
NM_000036.3(AMPD1):c.510T>C (p.Asp170=)	rs772153823	0.00001
NM_000036.3(AMPD1):c.687T>C (p.Pro229=)	rs748174102	0.00001
NC_000001.11:g.114695562G>A	rs748160625
NM_000036.3(AMPD1):c.-31T>C
NM_000036.3(AMPD1):c.1092+12C>G	rs532506042
NM_000036.3(AMPD1):c.1093-12T>A
NM_000036.3(AMPD1):c.1093-12T>C
NM_000036.3(AMPD1):c.1093-13T>C	rs1657920976
NM_000036.3(AMPD1):c.1093-5T>C
NM_000036.3(AMPD1):c.1170C>G (p.Leu390=)	rs566349141
NM_000036.3(AMPD1):c.1173C>T (p.Tyr391=)
NM_000036.3(AMPD1):c.117C>T (p.Ser39=)
NM_000036.3(AMPD1):c.1188T>C (p.Asn396=)	rs532589702
NM_000036.3(AMPD1):c.120C>G (p.Pro40=)
NM_000036.3(AMPD1):c.1224+15A>G
NM_000036.3(AMPD1):c.1225-13C>A
NM_000036.3(AMPD1):c.1242G>A (p.Leu414=)
NM_000036.3(AMPD1):c.1329C>T (p.Phe443=)
NM_000036.3(AMPD1):c.1383G>A (p.Arg461=)
NM_000036.3(AMPD1):c.1388+14C>T
NM_000036.3(AMPD1):c.1388+15A>G
NM_000036.3(AMPD1):c.1388+8C>A
NM_000036.3(AMPD1):c.1389-13T>C
NM_000036.3(AMPD1):c.1389-15C>A
NM_000036.3(AMPD1):c.1389-5T>C
NM_000036.3(AMPD1):c.1425T>C (p.Phe475=)
NM_000036.3(AMPD1):c.1515+20C>A	rs751358383
NM_000036.3(AMPD1):c.1515+7A>G
NM_000036.3(AMPD1):c.1516-14A>G
NM_000036.3(AMPD1):c.1557T>C (p.Ser519=)	rs2101711850
NM_000036.3(AMPD1):c.1560C>G (p.Gly520=)
NM_000036.3(AMPD1):c.156T>C (p.His52=)
NM_000036.3(AMPD1):c.1578G>A (p.Lys526=)
NM_000036.3(AMPD1):c.1590C>T (p.Pro530=)
NM_000036.3(AMPD1):c.1603T>C (p.Leu535=)
NM_000036.3(AMPD1):c.1662G>A (p.Val554=)
NM_000036.3(AMPD1):c.1734C>T (p.Ala578=)
NM_000036.3(AMPD1):c.174A>T (p.Ile58=)	rs375898522
NM_000036.3(AMPD1):c.1752A>G (p.Thr584=)
NM_000036.3(AMPD1):c.1782T>C (p.His594=)
NM_000036.3(AMPD1):c.1800+12G>T
NM_000036.3(AMPD1):c.1800+14T>G
NM_000036.3(AMPD1):c.1800+7T>C
NM_000036.3(AMPD1):c.1806C>G (p.Pro602=)
NM_000036.3(AMPD1):c.189T>G (p.Thr63=)	rs202046815
NM_000036.3(AMPD1):c.1924C>T (p.Leu642=)	rs760814471
NM_000036.3(AMPD1):c.1974+16G>T
NM_000036.3(AMPD1):c.1974+8A>G
NM_000036.3(AMPD1):c.1975-18C>T
NM_000036.3(AMPD1):c.1975-20_1975-18dup
NM_000036.3(AMPD1):c.2040C>T (p.Cys680=)
NM_000036.3(AMPD1):c.204A>T (p.Thr68=)
NM_000036.3(AMPD1):c.2086-7C>T
NM_000036.3(AMPD1):c.2106C>A (p.Gly702=)
NM_000036.3(AMPD1):c.2106C>T (p.Gly702=)
NM_000036.3(AMPD1):c.2133T>A (p.Ala711=)	rs2101709600
NM_000036.3(AMPD1):c.23-10C>T
NM_000036.3(AMPD1):c.23-4A>G	rs1388958387
NM_000036.3(AMPD1):c.255C>T (p.Ser85=)
NM_000036.3(AMPD1):c.261A>C (p.Pro87=)
NM_000036.3(AMPD1):c.282C>A (p.Thr94=)	rs1395096733
NM_000036.3(AMPD1):c.306C>T (p.Tyr102=)
NM_000036.3(AMPD1):c.315A>C (p.Ser105=)
NM_000036.3(AMPD1):c.323C>T (p.Thr108Ile)	rs547487220
NM_000036.3(AMPD1):c.333C>G (p.Thr111=)
NM_000036.3(AMPD1):c.333C>T (p.Thr111=)	rs138479739
NM_000036.3(AMPD1):c.34+19T>C
NM_000036.3(AMPD1):c.345T>C (p.Phe115=)
NM_000036.3(AMPD1):c.35-16T>C
NM_000036.3(AMPD1):c.35-7_35-4del	rs398123114
NM_000036.3(AMPD1):c.369C>T (p.Asp123=)
NM_000036.3(AMPD1):c.375C>T (p.Ala125=)
NM_000036.3(AMPD1):c.381+17C>T
NM_000036.3(AMPD1):c.381+20T>C
NM_000036.3(AMPD1):c.381+7T>A
NM_000036.3(AMPD1):c.382-18C>T
NM_000036.3(AMPD1):c.471G>A (p.Arg157=)
NM_000036.3(AMPD1):c.480A>G (p.Lys160=)
NM_000036.3(AMPD1):c.547+13T>C
NM_000036.3(AMPD1):c.547+15A>G
NM_000036.3(AMPD1):c.547+16del
NM_000036.3(AMPD1):c.624C>G (p.Leu208=)	rs542388930
NM_000036.3(AMPD1):c.633G>A (p.Lys211=)
NM_000036.3(AMPD1):c.726C>T (p.Asp242=)
NM_000036.3(AMPD1):c.767+12del
NM_000036.3(AMPD1):c.767+7G>A	rs774393161
NM_000036.3(AMPD1):c.768-19G>A
NM_000036.3(AMPD1):c.864C>T (p.Asn288=)	rs982156348
NM_000036.3(AMPD1):c.897+16G>A
NM_000036.3(AMPD1):c.897+19C>T
NM_000036.3(AMPD1):c.898-14G>A	rs1452349780
NM_000036.3(AMPD1):c.898-18C>A
NM_000036.3(AMPD1):c.898-9T>C
NM_000036.3(AMPD1):c.918A>G (p.Ala306=)
NM_000036.3(AMPD1):c.951T>C (p.Arg317=)
NM_000036.3(AMPD1):c.996T>C (p.Tyr332=)
NM_000036.3(AMPD1):c.9G>A (p.Leu3=)	rs2101730055

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