ClinVar Miner

List of variants reported by Leiden Muscular Dystrophy (MYL2)

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000432.4(MYL2):c.132T>C (p.Ile44=) rs2301610 0.08171
NM_000432.4(MYL2):c.275-58G>A rs2071629 0.06928
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_000432.4(MYL2):c.170G>A (p.Gly57Glu) rs199474809 0.00001
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369 0.00001
NM_000432.4(MYL2):c.283C>G (p.Pro95Ala) rs121913658 0.00001
NM_000432.4(MYL2):c.135C>T (p.Asp45=) rs199474807
NM_000432.4(MYL2):c.274+1G>C rs199474810
NM_000432.4(MYL2):c.310A>G (p.Lys104Glu) rs199474811
NM_000432.4(MYL2):c.353+20del rs3833910
NM_000432.4(MYL2):c.353+46dup rs142220381
NM_000432.4(MYL2):c.353+51C>T rs2233260
NM_000432.4(MYL2):c.354-2A>G rs199474812
NM_000432.4(MYL2):c.4-13T>C rs199474806
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000432.4(MYL2):c.497A>T (p.Asp166Val) rs199474815
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu) rs104894370
NM_000432.4(MYL2):c.58A>C (p.Met20Leu) rs199474816
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368

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