ClinVar Miner

List of variants studied for aminoacylase 1 deficiency

Included ClinVar conditions (1):
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000666.3(ACY1):c.1156C>T (p.Arg386Cys) rs2229152 0.00516
NM_000666.3(ACY1):c.1178G>A (p.Arg393His) rs121912701 0.00345
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_000666.3(ACY1):c.1177C>T (p.Arg393Cys) rs6804746 0.00159
NM_000666.3(ACY1):c.625C>T (p.Arg209Cys) rs140738368 0.00032
NM_000666.3(ACY1):c.1100G>A (p.Arg367His) rs201647575 0.00018
NM_000666.3(ACY1):c.575dup (p.Ser192fs) rs770702363 0.00014
NM_000666.3(ACY1):c.437-19G>A rs757575874 0.00008
NM_000666.3(ACY1):c.325A>G (p.Arg109Gly) rs139537461 0.00007
NM_000666.3(ACY1):c.1133G>A (p.Arg378Gln) rs150480963 0.00006
NM_000666.3(ACY1):c.1058G>A (p.Arg353His) rs779815701 0.00003
NM_000666.3(ACY1):c.1132C>T (p.Arg378Trp) rs148346337 0.00002
NM_000666.3(ACY1):c.699A>C (p.Glu233Asp) rs121912699 0.00002
NM_000666.3(ACY1):c.1000A>T (p.Met334Leu) rs767883181 0.00001
NM_000666.3(ACY1):c.1001T>C (p.Met334Thr) rs750876815 0.00001
NM_000666.3(ACY1):c.1001_1001+5del rs672601350 0.00001
NM_000666.3(ACY1):c.360-1G>A rs672601330 0.00001
NM_000666.3(ACY1):c.589C>T (p.Arg197Trp) rs121912700 0.00001
NM_022095.4(ZNF335):c.3346G>A (p.Gly1116Arg) rs780393773 0.00001
NM_000666.3(ACY1):c.1104_1105dup (p.Pro369fs) rs387906579
NM_000666.3(ACY1):c.1201G>T (p.Val401Leu) rs1701179354
NM_000666.3(ACY1):c.160-1G>A
NM_000666.3(ACY1):c.19G>C (p.Glu7Gln) rs953420417
NM_000666.3(ACY1):c.734_735del (p.Glu245fs) rs1701105628
NM_000666.3(ACY1):c.921+21A>T rs1701122828
NM_000666.3(ACY1):c.94+11G>A rs745456534
NM_001101.5(ACTB):c.587G>T (p.Arg196Leu) rs281875334

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