ClinVar Miner

List of variants in gene ANTXR2 reported as likely benign for Hyaline fibromatosis syndrome

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_058172.6(ANTXR2):c.331C>T (p.Arg111Cys) rs61741646 0.01167
NM_058172.6(ANTXR2):c.*947T>C rs114449405 0.00787
NM_058172.6(ANTXR2):c.*2303A>C rs115504770 0.00686
NM_058172.6(ANTXR2):c.*4630A>T rs190569143 0.00423
NM_058172.6(ANTXR2):c.*1563A>G rs143402499 0.00386
NM_058172.6(ANTXR2):c.*2245G>A rs116794675 0.00380
NM_058172.6(ANTXR2):c.*3902C>T rs191348548 0.00329
NM_058172.6(ANTXR2):c.*5223G>T rs192983822 0.00277
NM_058172.6(ANTXR2):c.916G>C (p.Gly306Arg) rs202143525 0.00175
NM_058172.6(ANTXR2):c.*242A>G rs139631974 0.00151
NM_058172.6(ANTXR2):c.*3649T>A rs147800526 0.00135
NM_058172.6(ANTXR2):c.324T>C (p.Asp108=) rs184413338 0.00131
NM_058172.6(ANTXR2):c.1360G>A (p.Ala454Thr) rs185151361 0.00027
NM_058172.6(ANTXR2):c.1179+3T>C rs199610196 0.00017
NM_058172.6(ANTXR2):c.*5425G>A rs568935269 0.00001
NM_058172.6(ANTXR2):c.*4856C>T rs149098653

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