List of variants in gene GTF2IRD1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_005685.4(GTF2IRD1):c.447G>T (p.Val149=)	rs145535993	0.00730
NM_005685.4(GTF2IRD1):c.441C>G (p.Ala147=)	rs112098981	0.00308
NM_005685.4(GTF2IRD1):c.39C>T (p.Asn13=)	rs151198189	0.00100
NM_005685.4(GTF2IRD1):c.2729C>T (p.Pro910Leu)	rs143878229	0.00070
NM_005685.4(GTF2IRD1):c.334C>T (p.Arg112Cys)	rs147763522	0.00025
NM_005685.4(GTF2IRD1):c.660C>T (p.Val220=)	rs148463467	0.00024
NM_005685.4(GTF2IRD1):c.1035C>T (p.Thr345=)	rs782111064	0.00002
NM_005685.4(GTF2IRD1):c.1848C>T (p.Asn616=)
NM_005685.4(GTF2IRD1):c.266-20G>A	rs138159923
NM_005685.4(GTF2IRD1):c.321C>T (p.Gly107=)
NM_005685.4(GTF2IRD1):c.779C>T (p.Thr260Met)

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