ClinVar Miner

List of variants in gene combination HYLS1, PUS3 reported by Natera, Inc.

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Total variants: 24
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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_031307.4(PUS3):c.-47+3170T>C rs104894232 0.00103
NM_001134793.2(HYLS1):c.298C>T (p.Arg100Cys) rs374420210 0.00006
NM_001134793.2(HYLS1):c.547G>A (p.Glu183Lys) rs374489253 0.00004
NM_001134793.2(HYLS1):c.589C>T (p.Leu197Phe) rs192439596 0.00004
NM_001134793.2(HYLS1):c.822A>G (p.Ala274=) rs777216787 0.00004
NM_001134793.2(HYLS1):c.132A>G (p.Gln44=) rs773632619 0.00002
NM_001134793.2(HYLS1):c.725G>A (p.Arg242Gln) rs374261603 0.00002
NM_001134793.2(HYLS1):c.15A>C (p.Leu5=) rs759153895 0.00001
NM_001134793.2(HYLS1):c.264A>G (p.Arg88=) rs761511515 0.00001
NM_001134793.2(HYLS1):c.662G>A (p.Arg221Gln) rs375332939 0.00001
NM_001134793.2(HYLS1):c.771T>C (p.His257=) rs953498744 0.00001
NM_001134793.2(HYLS1):c.895T>C (p.Ser299Pro) rs752716062 0.00001
NM_001134793.2(HYLS1):c.103G>C (p.Gly35Arg) rs1944692233
NM_001134793.2(HYLS1):c.183A>G (p.Arg61=) rs1944695435
NM_001134793.2(HYLS1):c.200A>G (p.Gln67Arg) rs1944696406
NM_001134793.2(HYLS1):c.234T>A (p.Pro78=) rs1944697741
NM_001134793.2(HYLS1):c.278TGA[1] (p.Met94del) rs1944700447
NM_001134793.2(HYLS1):c.675A>G (p.Ser225=) rs763523610
NM_001134793.2(HYLS1):c.846C>T (p.Asp282=) rs1944726159
NM_001134793.2(HYLS1):c.893CTT[1] (p.Ser299del) rs771348153

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