ClinVar Miner

List of variants reported as uncertain significance for May-Hegglin anomaly

Included ClinVar conditions (3):
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Total variants: 13
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NM_002473.5(MYH9):c.1730T>C (p.Val577Ala)
NM_002473.5(MYH9):c.193G>A (p.Val65Met) rs377348805
NM_002473.5(MYH9):c.2714G>A (p.Arg905His) rs727503289
NM_002473.5(MYH9):c.3340T>C (p.Ser1114Pro) rs200901330
NM_002473.5(MYH9):c.4261G>A (p.Glu1421Lys) rs1569534914
NM_002473.5(MYH9):c.4952T>C (p.Met1651Thr) rs142094977
NM_002473.5(MYH9):c.5081G>A (p.Arg1694His) rs538330756
NM_002473.5(MYH9):c.5275-7_5275-5del rs780656298
NM_002473.5(MYH9):c.5456T>G (p.Leu1819Arg) rs368440234
NM_002473.5(MYH9):c.658G>A (p.Ala220Thr) rs1556637683
NM_002473.6(MYH9):c.4552A>C (p.Lys1518Gln)
NM_002473.6(MYH9):c.4906G>A (p.Ala1636Thr)
NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr)

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