ClinVar Miner

List of variants in gene AMN reported by Fulgent Genetics, Fulgent Genetics

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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_030943.4(AMN):c.1137G>T (p.Ala379=) rs533317064 0.00159
NM_030943.4(AMN):c.1169+11C>G rs764673271 0.00115
NM_030943.4(AMN):c.844-3C>T rs145519816 0.00088
NM_030943.4(AMN):c.835C>T (p.Leu279=) rs371426960 0.00056
NM_030943.4(AMN):c.1349A>G (p.Glu450Gly) rs370794142 0.00053
NM_030943.4(AMN):c.63C>T (p.Ser21=) rs150802428 0.00051
NM_030943.4(AMN):c.735C>T (p.Pro245=) rs546245909 0.00038
NM_030943.4(AMN):c.321T>C (p.Ser107=) rs563004567 0.00034
NM_030943.4(AMN):c.651+3G>T rs751723677 0.00034
NM_030943.4(AMN):c.909C>T (p.Ala303=) rs373382273 0.00031
NM_030943.4(AMN):c.1258-14C>G rs767004707 0.00029
NM_030943.4(AMN):c.603C>A (p.Gly201=) rs535197788 0.00014
NM_030943.4(AMN):c.93C>T (p.Asp31=) rs772599857 0.00011
NM_030943.4(AMN):c.1123G>C (p.Val375Leu) rs759831593 0.00009
NM_030943.4(AMN):c.197T>C (p.Val66Ala) rs371713937 0.00007
NM_030943.4(AMN):c.841C>T (p.Leu281=) rs569327877 0.00007
NM_030943.4(AMN):c.45A>C (p.Ala15=) rs753339887 0.00006
NM_030943.4(AMN):c.400C>G (p.Arg134Gly) rs758317090 0.00005
NM_030943.4(AMN):c.1176G>A (p.Arg392=) rs1052377523 0.00004
NM_030943.4(AMN):c.1179G>A (p.Arg393=) rs1434288624 0.00003
NM_030943.4(AMN):c.448T>C (p.Phe150Leu) rs1039668619 0.00003
NM_030943.4(AMN):c.811C>T (p.Arg271Trp) rs765147150 0.00003
NM_030943.4(AMN):c.532G>A (p.Asp178Asn) rs575761625 0.00002
NM_030943.4(AMN):c.108G>C (p.Trp36Cys) rs199835580 0.00001
NM_030943.4(AMN):c.207+9G>A rs765056352 0.00001
NM_030943.4(AMN):c.356G>T (p.Arg119Leu) rs533436439 0.00001
NM_030943.4(AMN):c.492C>G (p.Arg164=) rs1388154450 0.00001
NM_030943.4(AMN):c.844-1G>C rs969552874 0.00001
NM_030943.4(AMN):c.1152C>T (p.Arg384=) rs763597496
NM_030943.4(AMN):c.1257+20dup rs759269975
NM_030943.4(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.4(AMN):c.760+1G>A rs1555381485

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