ClinVar Miner

List of variants studied for Hyaline fibromatosis syndrome by Baylor Genetics

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Total variants: 5
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HGVS dbSNP
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs) rs312262693
NM_058172.6(ANTXR2):c.1305del (p.Thr436fs) rs797045028
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_058172.6(ANTXR2):c.1361C>T (p.Ala454Val) rs372562244
NM_058172.6(ANTXR2):c.241T>C (p.Ser81Pro) rs797045029

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