List of variants in gene TBXAS1 reported as uncertain significance for Ghosal hematodiaphyseal dysplasia

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001061.7(TBXAS1):c.1520A>T (p.Glu507Val)	rs200663004	0.00044
NM_001061.7(TBXAS1):c.734A>G (p.Asn245Ser)	rs55856189	0.00033
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln)	rs199422117	0.00021
NM_001061.7(TBXAS1):c.1279G>A (p.Ala427Thr)	rs2286199	0.00019
NM_001061.7(TBXAS1):c.796C>T (p.Arg266Trp)	rs140774405	0.00015
NM_001061.7(TBXAS1):c.1255G>A (p.Glu419Lys)	rs150087656	0.00013
NM_001061.7(TBXAS1):c.1420G>A (p.Ala474Thr)	rs535281830	0.00007
NM_001061.7(TBXAS1):c.473C>A (p.Ala158Asp)	rs543782716	0.00004
NM_001061.7(TBXAS1):c.790G>T (p.Ala264Ser)	rs376564758	0.00004
NM_001061.7(TBXAS1):c.1580A>G (p.Tyr527Cys)	rs780924927	0.00002
NM_001061.7(TBXAS1):c.201A>C (p.Gln67His)	rs762628361	0.00002
NM_001061.7(TBXAS1):c.824G>A (p.Arg275Gln)	rs201485922	0.00002
NM_001061.7(TBXAS1):c.1310C>T (p.Ala437Val)
NM_001061.7(TBXAS1):c.605G>A (p.Trp202Ter)	rs1354346039
NM_001061.7(TBXAS1):c.643C>T (p.Arg215Cys)

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