ClinVar Miner

List of variants studied for Wiskott-Aldrich syndrome 2

Included ClinVar conditions (1):
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Total variants: 16
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HGVS dbSNP
NM_001077269.1(WIPF1):c.100A>G (p.Asn34Asp)
NM_001077269.1(WIPF1):c.1037C>T (p.Pro346Leu) rs149434153
NM_001077269.1(WIPF1):c.1084A>G (p.Ser362Gly) rs147847123
NM_001077269.1(WIPF1):c.1085G>A (p.Ser362Asn) rs779795011
NM_001077269.1(WIPF1):c.1296A>G (p.Pro432=) rs76731102
NM_001077269.1(WIPF1):c.1380C>T (p.Ser460=) rs753915750
NM_001077269.1(WIPF1):c.1413G>A (p.Thr471=) rs149092210
NM_001077269.1(WIPF1):c.1446C>T (p.Asn482=) rs116757787
NM_001077269.1(WIPF1):c.235G>A (p.Gly79Arg) rs531744802
NM_001077269.1(WIPF1):c.339C>G (p.Ser113=) rs76308107
NM_001077269.1(WIPF1):c.42G>A (p.Thr14=) rs111761533
NM_001077269.1(WIPF1):c.78T>C (p.Asn26=) rs35923393
NM_001077269.1(WIPF1):c.860C>T (p.Pro287Leu)
NM_001077269.1(WIPF1):c.860_862dup (p.Pro287_Gln288insPro) rs556678311
NM_001077269.1(WIPF1):c.936T>G (p.Pro312=) rs1040586347
WIPF1, SER434TER

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