ClinVar Miner

List of variants in gene LOC114827850, MYL2 studied for Cardiovascular phenotype

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Total variants: 27
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HGVS dbSNP gnomAD frequency
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.48C>T (p.Asn16=) rs552004172 0.00003
NM_000432.4(MYL2):c.49G>A (p.Val17Met) rs730880943 0.00003
NM_000432.4(MYL2):c.42C>T (p.Asn14=) rs878853980 0.00002
NM_000432.4(MYL2):c.-2C>T rs730880938 0.00001
NM_000432.4(MYL2):c.20A>G (p.Lys7Arg) rs1344327792 0.00001
NM_000432.4(MYL2):c.23A>G (p.Lys8Arg) rs886039195 0.00001
NM_000432.4(MYL2):c.63C>T (p.Phe21=) rs779983470 0.00001
NM_000432.4(MYL2):c.-1C>T
NM_000432.4(MYL2):c.18A>G (p.Ala6=)
NM_000432.4(MYL2):c.3+1G>T rs730880948
NM_000432.4(MYL2):c.30C>G (p.Ala10=)
NM_000432.4(MYL2):c.40A>C (p.Asn14His)
NM_000432.4(MYL2):c.41A>G (p.Asn14Ser)
NM_000432.4(MYL2):c.47del (p.Asn16fs) rs781431079
NM_000432.4(MYL2):c.4G>A (p.Ala2Thr) rs1060499882
NM_000432.4(MYL2):c.50T>C (p.Val17Ala) rs2136777356
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu) rs104894370
NM_000432.4(MYL2):c.61T>G (p.Phe21Val)
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000432.4(MYL2):c.64G>T (p.Glu22Ter) rs104894368
NM_000432.4(MYL2):c.72C>G (p.Thr24=) rs2136777292
NM_000432.4(MYL2):c.7C>T (p.Pro3Ser)
NM_000432.4(MYL2):c.83_93+1del
NM_000432.4(MYL2):c.93+5G>A rs2071703564

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