ClinVar Miner

List of variants in gene LOC114827850, MYL2 studied for Hypertrophic cardiomyopathy 10

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Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_000432.4(MYL2):c.4-14C>T rs12301951 0.03886
NM_000432.4(MYL2):c.4-14del rs531661702 0.00105
NM_000432.4(MYL2):c.36C>T (p.Gly12=) rs139794370 0.00072
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000432.4(MYL2):c.-28C>T rs377590769 0.00013
NM_000432.4(MYL2):c.33G>A (p.Gly11=) rs199742269 0.00011
NM_000432.4(MYL2):c.3+9A>G rs201763406 0.00007
NM_000432.4(MYL2):c.4-18G>A rs730880933 0.00003
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.30C>T (p.Ala10=) rs752641375 0.00002
NM_000432.4(MYL2):c.4-8T>C rs750730703 0.00002
NM_000432.4(MYL2):c.42C>T (p.Asn14=) rs878853980 0.00002
NM_000432.3(MYL2):c.-72T>C rs941432618 0.00001
NM_000432.4(MYL2):c.18A>G (p.Ala6=) rs2071704599 0.00001
NM_000432.4(MYL2):c.28G>A (p.Ala10Thr) rs730880942 0.00001
NM_000432.4(MYL2):c.3+14C>T rs1054078800 0.00001
NM_000432.4(MYL2):c.3+20G>A rs967103484 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.3G>A (p.Met1Ile) rs1555258369 0.00001
NM_000432.4(MYL2):c.4-19C>T rs1566150502 0.00001
NM_000432.4(MYL2):c.4-5C>G rs374870836 0.00001
NM_000432.4(MYL2):c.4G>T (p.Ala2Ser) rs1060499882 0.00001
NM_000432.4(MYL2):c.58A>G (p.Met20Val) rs199474816 0.00001
NM_000432.4(MYL2):c.63C>T (p.Phe21=) rs779983470 0.00001
NM_000432.4(MYL2):c.93+15T>C rs754871718 0.00001
NM_000432.3(MYL2):c.-62C>A rs1251308670
NM_000432.4(MYL2):c.-12G>C rs886048962
NM_000432.4(MYL2):c.11_15del (p.Lys4fs) rs747082468
NM_000432.4(MYL2):c.14A>G (p.Lys5Arg) rs730880941
NM_000432.4(MYL2):c.19_23del (p.Lys7fs) rs2499815055
NM_000432.4(MYL2):c.26G>A (p.Arg9Lys) rs2071704532
NM_000432.4(MYL2):c.28G>C (p.Ala10Pro) rs730880942
NM_000432.4(MYL2):c.3+13G>T rs2136779321
NM_000432.4(MYL2):c.3+15T>C
NM_000432.4(MYL2):c.3+1G>A rs730880948
NM_000432.4(MYL2):c.3+1G>T rs730880948
NM_000432.4(MYL2):c.3+2T>C rs111373423
NM_000432.4(MYL2):c.3+3_3+6del
NM_000432.4(MYL2):c.3+5G>C rs2499816622
NM_000432.4(MYL2):c.3+7A>C
NM_000432.4(MYL2):c.30C>A (p.Ala10=) rs752641375
NM_000432.4(MYL2):c.30C>G (p.Ala10=) rs752641375
NM_000432.4(MYL2):c.34G>A (p.Gly12Ser) rs730880937
NM_000432.4(MYL2):c.35G>A (p.Gly12Asp) rs762584624
NM_000432.4(MYL2):c.4-13dup rs756245911
NM_000432.4(MYL2):c.4-16T>C
NM_000432.4(MYL2):c.4-3del rs886048961
NM_000432.4(MYL2):c.4-5C>T rs374870836
NM_000432.4(MYL2):c.4-6_4-5delinsTT rs2136777520
NM_000432.4(MYL2):c.4-8T>A rs750730703
NM_000432.4(MYL2):c.4-8del rs756245911
NM_000432.4(MYL2):c.4-9T>A rs758688050
NM_000432.4(MYL2):c.4-9T>C rs758688050
NM_000432.4(MYL2):c.41A>C (p.Asn14Thr) rs2071704259
NM_000432.4(MYL2):c.41A>T (p.Asn14Ile) rs2071704259
NM_000432.4(MYL2):c.42C>A (p.Asn14Lys) rs878853980
NM_000432.4(MYL2):c.43T>G (p.Ser15Ala)
NM_000432.4(MYL2):c.45_46delinsT (p.Asn16fs) rs727504300
NM_000432.4(MYL2):c.46A>G (p.Asn16Asp) rs2136777385
NM_000432.4(MYL2):c.47A>G (p.Asn16Ser) rs2071704153
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.50del (p.Val17fs) rs2499814947
NM_000432.4(MYL2):c.51_61del (p.Phe18fs) rs754744244
NM_000432.4(MYL2):c.52T>A (p.Phe18Ile)
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu) rs104894370
NM_000432.4(MYL2):c.53T>C (p.Phe18Ser) rs730880944
NM_000432.4(MYL2):c.56C>G (p.Ser19Cys) rs2071704028
NM_000432.4(MYL2):c.56C>T (p.Ser19Phe)
NM_000432.4(MYL2):c.59T>A (p.Met20Lys) rs113167834
NM_000432.4(MYL2):c.62T>C (p.Phe21Ser) rs2499814915
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000432.4(MYL2):c.6del (p.Pro3fs) rs1085307533
NM_000432.4(MYL2):c.71C>T (p.Thr24Ile) rs2136777298
NM_000432.4(MYL2):c.72C>G (p.Thr24=) rs2136777292
NM_000432.4(MYL2):c.78C>T (p.Ile26=) rs755926255
NM_000432.4(MYL2):c.7C>T (p.Pro3Ser) rs763957786
NM_000432.4(MYL2):c.80A>G (p.Gln27Arg) rs397516408
NM_000432.4(MYL2):c.83A>G (p.Glu28Gly) rs2071703750
NM_000432.4(MYL2):c.84A>C (p.Glu28Asp) rs397516410
NM_000432.4(MYL2):c.88A>G (p.Lys30Glu)
NM_000432.4(MYL2):c.92A>G (p.Glu31Gly) rs2136777256
NM_000432.4(MYL2):c.93+11C>G rs1217072106
NM_000432.4(MYL2):c.93+11C>T
NM_000432.4(MYL2):c.93+14T>G rs2071703483
NM_000432.4(MYL2):c.93+17A>T
NM_000432.4(MYL2):c.93+1G>A rs2071703627
NM_000432.4(MYL2):c.93+4G>A rs1452586267
NM_000432.4(MYL2):c.93+9A>G rs201580029

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