ClinVar Miner

List of variants in gene HYLS1 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001134793.2(HYLS1):c.-26+11dup rs372611002 0.00038
NM_145014.3(HYLS1):c.-503G>A rs886047937 0.00001
NM_001134793.2(HYLS1):c.-26+10_-26+11dup rs1555099863
NM_001134793.2(HYLS1):c.-26+10_-26+11insA rs886047939
NM_001134793.2(HYLS1):c.-26+10_-26+11insAA rs886047939
NM_001134793.2(HYLS1):c.-26+10_-26+11insTA rs886047939
NM_001134793.2(HYLS1):c.-26+10dup rs1555099865
NM_001134793.2(HYLS1):c.-26+27_-26+28dup rs11382127
NM_001134793.2(HYLS1):c.-26+28dup rs11382127
NM_001134793.2(HYLS1):c.-65dup rs60408033
NM_001134793.2(HYLS1):c.-66_-65dup rs60408033
NM_001134793.2(HYLS1):c.-67_-65dup rs60408033

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