ClinVar Miner

List of variants in gene MYH7 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821 0.00267
NM_000257.4(MYH7):c.3853+7C>T rs45467397 0.00247
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_000257.4(MYH7):c.261C>T (p.Ile87=) rs148560996 0.00078
NM_000257.4(MYH7):c.1230C>T (p.Tyr410=) rs150885220 0.00061
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612 0.00044
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=) rs45523233 0.00016
NM_000257.4(MYH7):c.3861G>C (p.Leu1287=) rs150292548 0.00014
NM_000257.4(MYH7):c.240C>T (p.Asn80=) rs200493975 0.00012
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_000257.4(MYH7):c.327C>T (p.Tyr109=) rs36211408 0.00009
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.1323G>A (p.Thr441=) rs397516096 0.00005
NM_000257.4(MYH7):c.3273C>T (p.Asn1091=) rs200664031 0.00005
NM_000257.4(MYH7):c.444C>T (p.Ser148=) rs374466146 0.00005
NM_000257.4(MYH7):c.12G>A (p.Ser4=) rs45561941 0.00004
NM_000257.4(MYH7):c.3993C>T (p.His1331=) rs200288088 0.00004
NM_000257.4(MYH7):c.4077C>T (p.Arg1359=) rs45523835 0.00004
NM_000257.4(MYH7):c.4017C>T (p.Asp1339=) rs765801393 0.00002
NM_000257.4(MYH7):c.4197A>T (p.Glu1399Asp) rs730880725 0.00002
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=) rs200728597 0.00002
NM_000257.4(MYH7):c.1119G>A (p.Ala373=) rs572672362 0.00001
NM_000257.4(MYH7):c.1749C>T (p.Ala583=) rs758665829 0.00001
NM_000257.4(MYH7):c.2172C>A (p.Ile724=) rs752943580 0.00001
NM_000257.4(MYH7):c.3171C>T (p.Gly1057=) rs758822596 0.00001
NM_000257.4(MYH7):c.5787G>A (p.Thr1929=) rs397516257 0.00001
NM_000257.4(MYH7):c.*1C>T rs1566520659
NM_000257.4(MYH7):c.1017G>C (p.Leu339=)
NM_000257.4(MYH7):c.1611G>A (p.Glu537=) rs781288581
NM_000257.4(MYH7):c.1632C>A (p.Thr544=) rs587781089
NM_000257.4(MYH7):c.1755C>A (p.Ile585=) rs201860580
NM_000257.4(MYH7):c.1755C>T (p.Ile585=) rs201860580
NM_000257.4(MYH7):c.2808C>T (p.Leu936=)
NM_000257.4(MYH7):c.3693C>T (p.Val1231=)
NM_000257.4(MYH7):c.396G>T (p.Pro132=) rs138932714
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.5421C>A (p.Gly1807=) rs142844109
NM_000257.4(MYH7):c.5745C>T (p.Ser1915=) rs2138635156
NM_000257.4(MYH7):c.678T>C (p.Ala226=) rs1595089480

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