ClinVar Miner

List of variants reported as pathogenic for Hyaline fibromatosis syndrome

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Total variants: 14
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ANTXR2, 1-BP DEL, 1074T
NM_058172.6(ANTXR2):c.1069del (p.Ala357fs)
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs) rs312262690
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs) rs312262693
NM_058172.6(ANTXR2):c.1142A>G (p.Tyr381Cys) rs137852901
NM_058172.6(ANTXR2):c.1179G>A (p.Glu393=) rs546102223
NM_058172.6(ANTXR2):c.1305del (p.Thr436fs) rs797045028
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_058172.6(ANTXR2):c.314G>A (p.Gly105Asp) rs137852902
NM_058172.6(ANTXR2):c.566T>C (p.Ile189Thr) rs137852905
NM_058172.6(ANTXR2):c.652T>C (p.Cys218Arg)
NM_058172.6(ANTXR2):c.658G>T (p.Glu220Ter) rs137852904
NM_058172.6(ANTXR2):c.903dup (p.Ser302fs) rs1553933367
NM_058172.6(ANTXR2):c.986T>G (p.Leu329Arg) rs137852903

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