ClinVar Miner

List of variants studied for Hydrolethalus syndrome 1

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001134793.2(HYLS1):c.91T>C (p.Cys31Arg) rs667782 0.26652
NM_031307.4(PUS3):c.-47+3170T>C rs104894232 0.00103
NM_001134793.2(HYLS1):c.55C>T (p.Arg19Ter) rs143088549 0.00007
NM_001134793.2(HYLS1):c.298C>T (p.Arg100Cys) rs374420210 0.00006
NM_001134793.2(HYLS1):c.145_147del (p.Asp49del) rs1211996582
NM_001134793.2(HYLS1):c.167_169del (p.Val56del) rs774246149
NM_001134793.2(HYLS1):c.220_221del (p.Glu74fs) rs1555102458
NM_001134793.2(HYLS1):c.284_286dup (p.Lys95_Arg96insLys) rs1555102499
NM_001134793.2(HYLS1):c.459del (p.Lys153fs) rs1555102572
NM_001134793.2(HYLS1):c.536_544del (p.Ser179_Ala181del) rs1319206829
NM_001134793.2(HYLS1):c.546C>G (p.Tyr182Ter) rs149584336
NM_001134793.2(HYLS1):c.73_78del (p.Thr25_Ala26del) rs1555102367
NM_001134793.2(HYLS1):c.851_859del (p.Ala284_Gly286del) rs1555102865
NM_001134793.2(HYLS1):c.893CTT[1] (p.Ser299del) rs771348153

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