ClinVar Miner

List of variants reported as likely benign for MYH9-related disorder by Illumina Laboratory Services, Illumina

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_002473.5(MYH9):c.-201G>A rs189394948 0.01205
NM_002473.5(MYH9):c.*1394C>T rs144335048 0.00657
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr) rs142094977 0.00165
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu) rs145139708 0.00134
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp) rs76368635 0.00123
NM_002473.5(MYH9):c.*1399C>T rs544966086 0.00076
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro) rs200901330 0.00044
NM_002473.6(MYH9):c.2500-14A>G rs199505086 0.00031
NM_002473.6(MYH9):c.132C>T (p.Ala44=) rs138526426 0.00013
NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg) rs368440234 0.00006
NM_002473.6(MYH9):c.2205C>T (p.Asp735=) rs370860479 0.00005
NM_002473.6(MYH9):c.1728+7A>G rs201942027 0.00004
NM_002473.6(MYH9):c.1729-5G>A rs770021950 0.00003
NM_002473.6(MYH9):c.2041G>A (p.Gly681Ser) rs145241551 0.00003
NM_002473.6(MYH9):c.233C>T (p.Pro78Leu) rs150313549 0.00003
NM_002473.6(MYH9):c.1722C>T (p.Ala574=) rs373381680 0.00002
NM_002473.6(MYH9):c.4025G>A (p.Arg1342Gln) rs758159686 0.00002

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