List of variants in gene ANTXR2 reported as likely pathogenic for connective tissue neoplasm

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_058172.6(ANTXR2):c.1087-1G>A
NM_058172.6(ANTXR2):c.1148G>A (p.Gly383Asp)	rs886039907
NM_058172.6(ANTXR2):c.1190dup (p.Gly397_Asp398insTer)	rs1578125066
NM_058172.6(ANTXR2):c.1287_1288del (p.Arg429fs)
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro)	rs886041401
NM_058172.6(ANTXR2):c.211del (p.Glu71fs)
NM_058172.6(ANTXR2):c.241T>C (p.Ser81Pro)	rs797045029
NM_058172.6(ANTXR2):c.297-1G>A
NM_058172.6(ANTXR2):c.297-2del	rs2110109074
NM_058172.6(ANTXR2):c.487-2A>G
NM_058172.6(ANTXR2):c.496_497del (p.Ser166fs)
NM_058172.6(ANTXR2):c.720del (p.Ser240fs)	rs1732803804
NM_058172.6(ANTXR2):c.770dup (p.Tyr257Ter)	rs1578172709
NM_058172.6(ANTXR2):c.867_945del (p.Glu289fs)	rs1560998734

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