List of variants in gene THOC6 reported as uncertain significance for THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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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.569G>A (p.Gly190Glu)	rs199795381	0.00014
NM_024339.5(THOC6):c.484-13C>T	rs372197717	0.00002
NM_024339.5(THOC6):c.324G>C (p.Lys108Asn)	rs1302083979
NM_024339.5(THOC6):c.436G>A (p.Gly146Arg)	rs753642001
NM_024339.5(THOC6):c.493C>T (p.Arg165Trp)
NM_024339.5(THOC6):c.537G>T (p.Arg179Ser)	rs2072804977
NM_024339.5(THOC6):c.772C>T (p.Arg258Trp)

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