ClinVar Miner

List of variants reported as uncertain significance for THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome by Baylor Genetics

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_024339.5(THOC6):c.482C>T (p.Thr161Met) rs138706038 0.00065
NM_024339.5(THOC6):c.329G>A (p.Cys110Tyr) rs138453104 0.00053
NM_024339.5(THOC6):c.700G>C (p.Val234Leu) rs150940923 0.00020
NM_024339.5(THOC6):c.496G>A (p.Gly166Ser) rs934443026 0.00016
NM_024339.5(THOC6):c.484-13C>T rs372197717 0.00002
NM_024339.5(THOC6):c.436G>A (p.Gly146Arg) rs753642001
NM_024339.5(THOC6):c.537G>T (p.Arg179Ser) rs2072804977

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