ClinVar Miner

List of variants in gene combination LOC114827850, MYL2 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000432.4(MYL2):c.4-14C>T rs12301951 0.04173
NM_000432.4(MYL2):c.4-14del rs531661702 0.00105
NM_000432.4(MYL2):c.36C>T (p.Gly12=) rs139794370 0.00076
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000432.4(MYL2):c.33G>A (p.Gly11=) rs199742269 0.00011
NM_000432.4(MYL2):c.31G>A (p.Gly11Arg) rs397516402 0.00001
NM_000432.4(MYL2):c.45_46delinsT (p.Asn16fs) rs727504300
NM_000432.4(MYL2):c.4G>A (p.Ala2Thr) rs1060499882
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000432.4(MYL2):c.80A>G (p.Gln27Arg) rs397516408
NM_000432.4(MYL2):c.82G>A (p.Glu28Lys) rs397516409
NM_000432.4(MYL2):c.84A>T (p.Glu28Asp) rs397516410

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