List of variants in gene TBXAS1 reported as likely pathogenic 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln)	rs199422117	0.00021
NM_001061.7(TBXAS1):c.122_135del (p.Lys41fs)	rs763326515
NM_001061.7(TBXAS1):c.1420del (p.Ala474fs)	rs794727053
NM_001061.7(TBXAS1):c.451-2A>T
NM_001061.7(TBXAS1):c.859C>T (p.His287Tyr)	rs1203779981
NM_001061.7(TBXAS1):c.90-1G>A

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