ClinVar Miner

List of variants in gene LOC114827850, MYL2 studied for cardiovascular disorder

Included ClinVar conditions (1426):
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Gene type:
ClinVar version:
Total variants: 92
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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.-28C>T rs377590769 0.00041
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.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_000432.4(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.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.63C>T (p.Phe21=) rs779983470 0.00001
NM_000432.4(MYL2):c.93+15T>C rs754871718 0.00001
NM_001406916.1(MYL2):c.-55+788T>C rs941432618 0.00001
NM_000432.3(MYL2):c.-62C>A rs1251308670
NM_000432.4(MYL2):c.-12G>A rs886048962
NM_000432.4(MYL2):c.-12G>C rs886048962
NM_000432.4(MYL2):c.-16_-13del rs2071716291
NM_000432.4(MYL2):c.-3A>G rs1313785501
NM_000432.4(MYL2):c.11A>G (p.Lys4Arg)
NM_000432.4(MYL2):c.14A>G (p.Lys5Arg) rs730880941
NM_000432.4(MYL2):c.18A>G (p.Ala6=)
NM_000432.4(MYL2):c.19_23del (p.Lys7fs)
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+14C>T
NM_000432.4(MYL2):c.3+1G>T rs730880948
NM_000432.4(MYL2):c.3+20G>A
NM_000432.4(MYL2):c.3+2T>C rs111373423
NM_000432.4(MYL2):c.3+5G>C
NM_000432.4(MYL2):c.30C>A (p.Ala10=) rs752641375
NM_000432.4(MYL2):c.30C>G (p.Ala10=)
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>A (p.Gly12Asp) rs762584624
NM_000432.4(MYL2):c.35G>T (p.Gly12Val) rs762584624
NM_000432.4(MYL2):c.4-13dup rs756245911
NM_000432.4(MYL2):c.4-3C>G
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
NM_000432.4(MYL2):c.4-8del
NM_000432.4(MYL2):c.4-9T>A rs758688050
NM_000432.4(MYL2):c.4-9T>C
NM_000432.4(MYL2):c.41A>C (p.Asn14Thr) rs2071704259
NM_000432.4(MYL2):c.41A>T (p.Asn14Ile)
NM_000432.4(MYL2):c.42C>A (p.Asn14Lys) rs878853980
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.49del (p.Val17fs) rs2136777366
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)
NM_000432.4(MYL2):c.51_61del (p.Phe18fs) rs754744244
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.58A>G (p.Met20Val) rs199474816
NM_000432.4(MYL2):c.59T>A (p.Met20Lys) rs113167834
NM_000432.4(MYL2):c.62T>C (p.Phe21Ser)
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)
NM_000432.4(MYL2):c.80A>G (p.Gln27Arg) rs397516408
NM_000432.4(MYL2):c.81G>C (p.Gln27His) rs1566150393
NM_000432.4(MYL2):c.83A>G (p.Glu28Gly) rs2071703750
NM_000432.4(MYL2):c.84A>C (p.Glu28Asp)
NM_000432.4(MYL2):c.84A>T (p.Glu28Asp) rs397516410
NM_000432.4(MYL2):c.92A>G (p.Glu31Gly) rs2136777256
NM_000432.4(MYL2):c.92_93+1del rs751392310
NM_000432.4(MYL2):c.93+11C>G rs1217072106
NM_000432.4(MYL2):c.93+14T>G
NM_000432.4(MYL2):c.93+1G>A rs2071703627
NM_000432.4(MYL2):c.93+4G>A rs1452586267
NM_000432.4(MYL2):c.93+5G>A rs2071703564
NM_000432.4(MYL2):c.93+9A>G rs201580029

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