ClinVar Miner

List of variants reported as uncertain significance for MYH9-related disorder by PreventionGenetics, part of Exact Sciences

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys) rs149560153 0.00026
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn) rs34292387 0.00025
NM_002473.6(MYH9):c.32A>G (p.Tyr11Cys) rs201415443 0.00015
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr) rs767426084 0.00007
NM_002473.6(MYH9):c.3676C>T (p.Arg1226Trp) rs375797448 0.00006
NM_002473.6(MYH9):c.1021C>T (p.Arg341Trp) rs759123154 0.00004
NM_002473.6(MYH9):c.1201G>A (p.Val401Ile) rs369581570 0.00003
NM_002473.6(MYH9):c.5191A>G (p.Ile1731Val) rs1205219578 0.00003
NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp) rs727503281 0.00003
NM_002473.6(MYH9):c.5851G>A (p.Ala1951Thr) rs775685559 0.00003
NM_002473.6(MYH9):c.2405G>A (p.Arg802Gln) rs765414397 0.00001
NM_002473.6(MYH9):c.584C>T (p.Ala195Val) rs2017339450 0.00001
NM_002473.6(MYH9):c.1109-6_1109-2del rs1268509764
NM_002473.6(MYH9):c.166G>A (p.Val56Met)
NM_002473.6(MYH9):c.167T>A (p.Val56Glu)
NM_002473.6(MYH9):c.1815C>G (p.Asp605Glu)
NM_002473.6(MYH9):c.1873G>T (p.Ala625Ser)
NM_002473.6(MYH9):c.2024A>G (p.Asn675Ser)
NM_002473.6(MYH9):c.2221G>A (p.Val741Met)
NM_002473.6(MYH9):c.2255A>G (p.Asn752Ser)
NM_002473.6(MYH9):c.2398_2400delinsTTT (p.Ala800Phe)
NM_002473.6(MYH9):c.2404C>T (p.Arg802Trp)
NM_002473.6(MYH9):c.2449G>A (p.Ala817Thr)
NM_002473.6(MYH9):c.3193G>C (p.Ala1065Pro)
NM_002473.6(MYH9):c.3323A>C (p.Glu1108Ala)
NM_002473.6(MYH9):c.3643C>T (p.Leu1215Phe)
NM_002473.6(MYH9):c.36G>A (p.Val12=)
NM_002473.6(MYH9):c.3838-7G>A
NM_002473.6(MYH9):c.3838G>A (p.Val1280Met) rs141582478
NM_002473.6(MYH9):c.4187G>T (p.Gly1396Val)
NM_002473.6(MYH9):c.422A>G (p.Lys141Arg)
NM_002473.6(MYH9):c.4379A>G (p.Tyr1460Cys)
NM_002473.6(MYH9):c.4679T>G (p.Val1560Gly) rs1064794326
NM_002473.6(MYH9):c.4711C>T (p.Arg1571Trp)
NM_002473.6(MYH9):c.4933-6C>T
NM_002473.6(MYH9):c.4975G>A (p.Ala1659Thr)
NM_002473.6(MYH9):c.5061+5G>A
NM_002473.6(MYH9):c.5089C>T (p.Arg1697Cys)
NM_002473.6(MYH9):c.5251C>T (p.Arg1751Trp) rs770433607
NM_002473.6(MYH9):c.5275-7_5275-5del rs780656298
NM_002473.6(MYH9):c.5354G>T (p.Arg1785Leu) rs774015925
NM_002473.6(MYH9):c.5380C>G (p.Leu1794Val)
NM_002473.6(MYH9):c.5462A>G (p.Glu1821Gly)
NM_002473.6(MYH9):c.5465A>G (p.Gln1822Arg)
NM_002473.6(MYH9):c.5508G>C (p.Gln1836His)
NM_002473.6(MYH9):c.5657C>T (p.Ala1886Val)
NM_002473.6(MYH9):c.5711C>T (p.Thr1904Ile)
NM_002473.6(MYH9):c.5734C>T (p.Arg1912Cys) rs1603482694
NM_002473.6(MYH9):c.575C>T (p.Ala192Val)
NM_002473.6(MYH9):c.5765+2dup
NM_002473.6(MYH9):c.5767C>T (p.Arg1923Cys)
NM_002473.6(MYH9):c.5775C>A (p.Asp1925Glu)
NM_002473.6(MYH9):c.5788G>A (p.Val1930Met) rs142565774
NM_002473.6(MYH9):c.5866G>T (p.Ala1956Ser)
NM_002473.6(MYH9):c.60G>T (p.Pro20=)
NM_002473.6(MYH9):c.737A>G (p.Asn246Ser)
NM_002473.6(MYH9):c.914A>G (p.Asn305Ser)

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