ClinVar Miner

List of variants in gene TMLHE reported as risk factor for autism, susceptiblity to

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_018196.4(TMLHE):c.1107G>T (p.Glu369Asp) rs782001959 0.00571
NM_018196.4(TMLHE):c.229C>T (p.Arg77Ter) rs781889971 0.00005
NM_018196.4(TMLHE):c.730G>C (p.Asp244His) rs869320708
NM_018196.4(TMLHE):c.961_962del (p.Ile321fs) rs782624357

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