ClinVar Miner

List of variants reported as benign for Wiskott-Aldrich syndrome 2

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001375834.1(WIPF1):c.593C>T (p.Pro198Leu) rs4972450 0.92386
NM_001375834.1(WIPF1):c.957T>G (p.Pro319=) rs112447307 0.04681
NM_001375834.1(WIPF1):c.1446C>T (p.Asn482=) rs116757787 0.01011
NM_001375834.1(WIPF1):c.42G>A (p.Thr14=) rs111761533 0.00937
NM_001375834.1(WIPF1):c.339C>G (p.Ser113=) rs76308107 0.00619
NM_001375834.1(WIPF1):c.1413G>A (p.Thr471=) rs149092210 0.00525
NM_001375834.1(WIPF1):c.1296A>G (p.Pro432=) rs76731102 0.00414
NM_001375834.1(WIPF1):c.78T>C (p.Asn26=) rs35923393 0.00186
NM_001375834.1(WIPF1):c.208G>A (p.Gly70Ser) rs138276021 0.00051
NM_001375834.1(WIPF1):c.1164C>T (p.Asn388=) rs41270199 0.00016
NM_001375834.1(WIPF1):c.1130-8dup
NM_001375834.1(WIPF1):c.1227T>C (p.Ser409=) rs577852991
NM_001375834.1(WIPF1):c.1342+20C>T rs77346261
NM_001375834.1(WIPF1):c.181+13dup

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