ClinVar Miner

List of variants reported as likely pathogenic for Hyaline fibromatosis syndrome

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Total variants: 9
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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.1312C>T (p.Gln438Ter)
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_058172.6(ANTXR2):c.241T>C (p.Ser81Pro) rs797045029
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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