ClinVar Miner

List of variants in gene TYRP1 studied for albinism

Included ClinVar conditions (44):
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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_000550.3(TYRP1):c.-119G>T rs147861369
NM_000550.3(TYRP1):c.-15C>G rs200678533
NM_000550.3(TYRP1):c.-161G>T rs7867043
NM_000550.3(TYRP1):c.-167G>A rs181711630
NM_000550.3(TYRP1):c.-69G>T rs181350173
NM_000550.3(TYRP1):c.-6A>G rs200838609
NM_000550.3(TYRP1):c.-70C>T rs766836831
NM_000550.3(TYRP1):c.107del (p.Ala35_Leu36insTer) rs387906561
NM_000550.3(TYRP1):c.208G>A (p.Ala70Thr) rs61752864
NM_000550.3(TYRP1):c.256G>T (p.Asp86Tyr) rs1563851602
NM_000550.3(TYRP1):c.259C>A (p.Arg87=) rs34509359
NM_000550.3(TYRP1):c.278G>A (p.Arg93His) rs61752937
NM_000550.3(TYRP1):c.308G>A (p.Gly103Asp) rs761214982
NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter) rs104894130
NM_000550.3(TYRP1):c.527C>T (p.Thr176Met) rs886063413
NM_000550.3(TYRP1):c.670C>T (p.His224Tyr) rs1057518841
NM_000550.3(TYRP1):c.70G>A (p.Ala24Thr) rs61758405
NM_000550.3(TYRP1):c.729T>C (p.Ser243=) rs35866166
NM_000550.3(TYRP1):c.913+9C>T rs147268542

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