ClinVar Miner

List of variants reported as benign for Hydrolethalus syndrome

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001134793.2(HYLS1):c.91T>C (p.Cys31Arg) rs667782 0.26652
NM_001134793.2(HYLS1):c.273G>T (p.Lys91Asn) rs78786765 0.00834
NM_001134793.2(HYLS1):c.468A>G (p.Leu156=) rs138284572 0.00148
NM_001134793.2(HYLS1):c.86A>C (p.His29Pro) rs200146258 0.00126
NM_001134793.2(HYLS1):c.-26+27_-26+28dup rs11382127
NM_001134793.2(HYLS1):c.-66_-65dup rs60408033

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