ClinVar Miner

List of variants studied for Intellectual disability, X-linked syndromic, Turner type by 3billion

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_031407.7(HUWE1):c.5167C>A (p.Pro1723Thr) rs1478606307 0.00004
NM_031407.7(HUWE1):c.12224A>T (p.Asn4075Ile)
NM_031407.7(HUWE1):c.12293A>G (p.His4098Arg) rs2146879830
NM_031407.7(HUWE1):c.12335G>A (p.Arg4112His) rs2522053931
NM_031407.7(HUWE1):c.12404A>C (p.His4135Pro) rs2146878120
NM_031407.7(HUWE1):c.12407T>C (p.Ile4136Thr)
NM_031407.7(HUWE1):c.4133C>A (p.Ala1378Glu)
NM_031407.7(HUWE1):c.5884+3A>G rs2148030893
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876

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