ClinVar Miner

List of variants in gene combination HYLS1, PUS3 reported by GeneDx

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001134793.2(HYLS1):c.-25-313G>A rs529457 0.81797
NM_031307.4(PUS3):c.-25C>G rs600761 0.80929
NM_031307.4(PUS3):c.-28G>A rs471980 0.80925
NM_001134793.2(HYLS1):c.91T>C (p.Cys31Arg) rs667782 0.26652
NM_001134793.2(HYLS1):c.*262A>C rs2236681 0.20801
NM_031307.4(PUS3):c.-47+3170T>C rs104894232 0.00096
NM_031307.4(PUS3):c.205A>G (p.Ile69Val) rs148523530 0.00016
NM_001134793.2(HYLS1):c.-25-3745C>T rs780046582 0.00004
NM_031307.4(PUS3):c.1A>G (p.Met1Val) rs543614309 0.00004
NM_031307.4(PUS3):c.64G>A (p.Glu22Lys) rs202176811 0.00004
NM_001134793.2(HYLS1):c.-26+2693C>G rs779598027 0.00002
NM_031307.4(PUS3):c.577C>T (p.Arg193Trp) rs377076175 0.00002
NM_031307.4(PUS3):c.578G>A (p.Arg193Gln) rs576405108 0.00002
NM_001134793.2(HYLS1):c.-25-3061A>G rs1296929975 0.00001
NM_001134793.2(HYLS1):c.-25-3062C>G rs776702167 0.00001
NM_031307.4(PUS3):c.497G>A (p.Arg166Gln) rs200876642 0.00001
NM_001134793.2(HYLS1):c.-25-3153G>A
NM_001134793.2(HYLS1):c.-25-3199C>T
NM_001134793.2(HYLS1):c.-25-3215C>G rs2134246776
NM_001134793.2(HYLS1):c.-25-3733G>T rs2134244840
NM_001134793.2(HYLS1):c.-26+2594C>T
NM_001134793.2(HYLS1):c.839G>T (p.Arg280Leu) rs139714318
NM_031307.4(PUS3):c.1333GAA[1] (p.Glu446del) rs1944488844
NM_031307.4(PUS3):c.157C>T (p.Arg53Cys)
NM_031307.4(PUS3):c.55C>T (p.Arg19Ter) rs747920338

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