ClinVar Miner

List of variants reported as benign for Oculocutaneous albinism type 3

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000550.3(TYRP1):c.1409-18dup rs147565972 0.51109
NM_000550.3(TYRP1):c.*908T>C rs1063380 0.50921
NM_000550.3(TYRP1):c.*853A>C rs910 0.49606
NM_000550.3(TYRP1):c.*123C>A rs683 0.48015
NM_000550.3(TYRP1):c.*404A>T rs2762464 0.46929
NM_000550.3(TYRP1):c.259C>A (p.Arg87=) rs34509359 0.04615
NM_000550.3(TYRP1):c.729T>C (p.Ser243=) rs35866166 0.04447
NM_000550.3(TYRP1):c.-161G>T rs7867043 0.04161
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter) rs41302073 0.01144
NM_000550.3(TYRP1):c.98T>C (p.Val33Ala) rs146838872 0.00128
NM_000550.3(TYRP1):c.1261+20C>T rs2733832

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