ClinVar Miner

List of variants reported as likely benign for hypotrichosis-lymphedema-telangiectasia syndrome

Included ClinVar conditions (2):

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_018419.3(SOX18):c.243C>T (p.Asp81=)	rs144785707	0.01962
NM_018419.3(SOX18):c.1149C>T (p.Ser383=)	rs377287358	0.00010
NM_018419.3(SOX18):c.1014C>G (p.Pro338=)	rs757152110	0.00003

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