ClinVar Miner

List of variants studied for Wiskott-Aldrich syndrome 2

Included ClinVar conditions (1):
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Total variants: 59
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HGVS dbSNP
NC_000002.11:g.(?_175427255)_(175450321_?)dup
NM_001077269.1(WIPF1):c.100A>G (p.Asn34Asp) rs373043385
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.1301C>G (p.Ser434Ter) rs1574785867
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.208G>A (p.Gly70Ser) rs138276021
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.473G>A (p.Arg158Lys) rs148175242
NM_001077269.1(WIPF1):c.712T>C (p.Ser238Pro) rs1185793589
NM_001077269.1(WIPF1):c.776C>T (p.Ala259Val) rs139003789
NM_001077269.1(WIPF1):c.78T>C (p.Asn26=) rs35923393
NM_001077269.1(WIPF1):c.860C>T (p.Pro287Leu) rs891642872
NM_001077269.1(WIPF1):c.860_862del rs556678311
NM_001077269.1(WIPF1):c.936T>G (p.Pro312=) rs1040586347
NM_001375834.1(WIPF1):c.1116G>A (p.Pro372=) rs138920689
NM_001375834.1(WIPF1):c.1164C>T (p.Asn388=) rs41270199
NM_001375834.1(WIPF1):c.1170C>T (p.Ser390=) rs1205840828
NM_001375834.1(WIPF1):c.1227T>C (p.Ser409=) rs577852991
NM_001375834.1(WIPF1):c.1229C>A (p.Pro410His)
NM_001375834.1(WIPF1):c.122G>A (p.Ser41Asn)
NM_001375834.1(WIPF1):c.1252C>G (p.Leu418Val)
NM_001375834.1(WIPF1):c.1295C>T (p.Pro432Leu)
NM_001375834.1(WIPF1):c.1441A>G (p.Arg481Gly)
NM_001375834.1(WIPF1):c.1454G>A (p.Arg485Gln)
NM_001375834.1(WIPF1):c.1497T>A (p.Pro499=) rs749710168
NM_001375834.1(WIPF1):c.16C>A (p.Pro6Thr)
NM_001375834.1(WIPF1):c.19_20delinsAG (p.Pro7Arg)
NM_001375834.1(WIPF1):c.212G>A (p.Gly71Asp) rs145037448
NM_001375834.1(WIPF1):c.231C>T (p.Gly77=)
NM_001375834.1(WIPF1):c.232G>A (p.Gly78Ser)
NM_001375834.1(WIPF1):c.235G>C (p.Gly79Arg)
NM_001375834.1(WIPF1):c.243C>T (p.Gly81=) rs146533814
NM_001375834.1(WIPF1):c.255_269del (p.Gly86_Gly90del)
NM_001375834.1(WIPF1):c.30G>A (p.Pro10=) rs745425874
NM_001375834.1(WIPF1):c.32C>T (p.Pro11Leu) rs148943760
NM_001375834.1(WIPF1):c.38C>T (p.Pro13Leu)
NM_001375834.1(WIPF1):c.401G>A (p.Arg134Lys)
NM_001375834.1(WIPF1):c.430C>A (p.Pro144Thr)
NM_001375834.1(WIPF1):c.430C>G (p.Pro144Ala)
NM_001375834.1(WIPF1):c.509C>T (p.Pro170Leu)
NM_001375834.1(WIPF1):c.593C>T (p.Pro198Leu) rs4972450
NM_001375834.1(WIPF1):c.600C>G (p.Asn200Lys)
NM_001375834.1(WIPF1):c.605G>C (p.Gly202Ala)
NM_001375834.1(WIPF1):c.650C>T (p.Pro217Leu)
NM_001375834.1(WIPF1):c.76A>T (p.Asn26Tyr)
NM_001375834.1(WIPF1):c.811G>A (p.Val271Met)
NM_001375834.1(WIPF1):c.841G>C (p.Ala281Pro)
NM_001375834.1(WIPF1):c.848C>G (p.Pro283Arg)
NM_001375834.1(WIPF1):c.975C>G (p.Ser325=) rs751419161
NM_001375834.1(WIPF1):c.978C>G (p.Ser326Arg) rs147080148
NM_001375834.1(WIPF1):c.987C>T (p.Asp329=) rs201234000
NM_003387.5(WIPF1):c.851_853CTC[5] (p.Pro287dup) rs556678311

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