ClinVar Miner

List of variants in gene combination LOC114827850, MYL2 reported as uncertain significance by Color Diagnostics, LLC DBA Color Health

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000432.4(MYL2):c.49G>A (p.Val17Met) rs730880943 0.00003
NM_000432.4(MYL2):c.-2C>T rs730880938 0.00001
NM_000432.4(MYL2):c.28G>A (p.Ala10Thr) rs730880942 0.00001
NM_000432.4(MYL2):c.31G>A (p.Gly11Arg) rs397516402 0.00001
NM_000432.4(MYL2):c.34G>T (p.Gly12Cys) rs730880937 0.00001
NM_000432.4(MYL2):c.4-5C>G rs374870836 0.00001
NM_000432.4(MYL2):c.-12G>A rs886048962
NM_000432.4(MYL2):c.-16_-13del rs2071716291
NM_000432.4(MYL2):c.11A>G (p.Lys4Arg)
NM_000432.4(MYL2):c.31G>C (p.Gly11Arg) rs397516402
NM_000432.4(MYL2):c.34G>A (p.Gly12Ser) rs730880937
NM_000432.4(MYL2):c.35G>T (p.Gly12Val) rs762584624
NM_000432.4(MYL2):c.4-3C>G
NM_000432.4(MYL2):c.49del (p.Val17fs) rs2136777366
NM_000432.4(MYL2):c.56C>G (p.Ser19Cys) rs2071704028
NM_000432.4(MYL2):c.58A>G (p.Met20Val) rs199474816
NM_000432.4(MYL2):c.92_93+1del rs751392310
NM_000432.4(MYL2):c.93+5G>A rs2071703564

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