ClinVar Miner

List of variants reported as pathogenic for THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg) rs138632121 0.00020
NM_024339.5(THOC6):c.700G>C (p.Val234Leu) rs150940923 0.00020
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp) rs200426926 0.00020
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381 0.00014
NM_024339.5(THOC6):c.136G>A (p.Gly46Arg) rs587777030 0.00001
NM_024339.5(THOC6):c.259C>T (p.Arg87Ter) rs763344375 0.00001
NM_024339.5(THOC6):c.135C>A (p.Tyr45Ter) rs772533643
NM_024339.5(THOC6):c.445C>T (p.Gln149Ter) rs374551434
NM_024339.5(THOC6):c.577C>T (p.Arg193Ter) rs1194408714
NM_024339.5(THOC6):c.611A>C (p.Gln204Pro) rs1567416845
NM_024339.5(THOC6):c.748A>C (p.Thr250Pro) rs1555498821
NM_024339.5(THOC6):c.793_794del (p.Thr265fs) rs773022351
NM_024339.5(THOC6):c.[298T>A;700G>C824G>A]

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