ClinVar Miner

List of variants studied for Muscle AMP deaminase deficiency by Revvity Omics, Revvity

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
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.381+1G>C rs143303736 0.00125
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp) rs61758863 0.00124
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_000036.3(AMPD1):c.512G>A (p.Gly171Asp) rs142582318 0.00093
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu) rs150645738 0.00070
NM_000036.3(AMPD1):c.1986G>A (p.Met662Ile) rs115092288 0.00053
NM_000036.3(AMPD1):c.688A>G (p.Lys230Glu) rs138705920 0.00042
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00031
NM_000036.3(AMPD1):c.971A>G (p.Gln324Arg) rs150190849 0.00029
NM_000036.3(AMPD1):c.1794A>T (p.Leu598Phe) rs200717164 0.00025
NM_000036.3(AMPD1):c.785G>A (p.Arg262Gln) rs764094155 0.00014
NM_000036.3(AMPD1):c.637G>A (p.Gly213Ser) rs373262677 0.00013
NM_000036.3(AMPD1):c.2146C>T (p.Arg716Trp) rs143596876 0.00011
NM_000036.3(AMPD1):c.424C>T (p.Arg142Trp) rs369963978 0.00009
NC_000001.11:g.114695547A>G rs377496676 0.00008
NM_000036.3(AMPD1):c.958A>G (p.Lys320Glu) rs376193713 0.00008
NM_000036.3(AMPD1):c.577G>A (p.Asp193Asn) rs376789465 0.00007
NM_000036.3(AMPD1):c.1111C>A (p.Arg371Ser) rs143303551 0.00005
NM_000036.3(AMPD1):c.1192A>G (p.Ile398Val) rs1263217341 0.00004
NM_000036.3(AMPD1):c.1974+1G>A rs145328844 0.00004
NM_000036.3(AMPD1):c.53G>A (p.Arg18His) rs140601541 0.00004
NM_000036.3(AMPD1):c.784C>T (p.Arg262Trp) rs768332999 0.00004
NM_000036.3(AMPD1):c.787C>T (p.Arg263Cys) rs139003085 0.00004
NM_000036.3(AMPD1):c.2147G>A (p.Arg716Gln) rs886045093 0.00003
NM_000036.3(AMPD1):c.2182C>T (p.Arg728Cys) rs777802711 0.00002
NM_000036.3(AMPD1):c.296T>C (p.Ile99Thr) rs765248906 0.00002
NM_000036.3(AMPD1):c.1708C>T (p.Arg570Ter) rs377185948 0.00001
NM_000036.3(AMPD1):c.40G>A (p.Asp14Asn) rs866261066 0.00001
NM_000036.3(AMPD1):c.793A>G (p.Lys265Glu) rs886044350 0.00001
NM_000036.3(AMPD1):c.950G>A (p.Arg317His) rs142123340 0.00001
NM_000036.3(AMPD1):c.1096C>T (p.Arg366Cys)
NM_000036.3(AMPD1):c.1163G>A (p.Arg388Gln)
NM_000036.3(AMPD1):c.124G>A (p.Asp42Asn)
NM_000036.3(AMPD1):c.1319C>T (p.Ser440Phe)
NM_000036.3(AMPD1):c.1619C>G (p.Ser540Cys)
NM_000036.3(AMPD1):c.1684C>T (p.Arg562Ter)
NM_000036.3(AMPD1):c.1931T>A (p.Ile644Asn)
NM_000036.3(AMPD1):c.2063T>C (p.Leu688Ser)
NM_000036.3(AMPD1):c.2171G>A (p.Arg724His)
NM_000036.3(AMPD1):c.2183G>A (p.Arg728His)
NM_000036.3(AMPD1):c.236G>A (p.Arg79Gln) rs200543002
NM_000036.3(AMPD1):c.304T>C (p.Tyr102His)
NM_000036.3(AMPD1):c.329A>C (p.Gln110Pro)
NM_000036.3(AMPD1):c.35-2A>G
NM_000036.3(AMPD1):c.587G>A (p.Arg196Gln)
NM_000036.3(AMPD1):c.5del (p.Pro2fs) rs557878856
NM_000036.3(AMPD1):c.640G>T (p.Val214Leu)
NM_000036.3(AMPD1):c.659A>G (p.Asn220Ser)
NM_000036.3(AMPD1):c.773C>G (p.Thr258Ser)
NM_000036.3(AMPD1):c.788G>A (p.Arg263His)
NM_000036.3(AMPD1):c.810G>A (p.Lys270=)
NM_000036.3(AMPD1):c.942T>A (p.His314Gln)
NM_000036.3(AMPD1):c.988G>A (p.Val330Met)

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