ClinVar Miner

List of variants reported for Hydrolethalus syndrome 1 by Counsyl

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001134793.2(HYLS1):c.55C>T (p.Arg19Ter) rs143088549 0.00007
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.Lys95dup) 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.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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