ClinVar Miner

List of variants in gene MYL3 reported by Ambry Genetics

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Gene type:
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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_000258.3(MYL3):c.69C>T (p.Pro23=) rs2233264 0.02058
NM_000258.3(MYL3):c.81T>C (p.Pro27=) rs147584015 0.00133
NM_000258.3(MYL3):c.4G>C (p.Ala2Pro) rs148310342 0.00012
NM_000258.3(MYL3):c.516G>A (p.Leu172=) rs367761724 0.00008
NM_000258.3(MYL3):c.420C>T (p.Phe140=) rs201138698 0.00006
NM_000258.3(MYL3):c.552C>T (p.Asn184=) rs140829951 0.00006
NM_000258.3(MYL3):c.399C>T (p.Phe133=) rs112992334 0.00005
NM_000258.3(MYL3):c.246G>A (p.Ala82=) rs368364468 0.00004
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys) rs143852164 0.00004
NM_000258.3(MYL3):c.466G>A (p.Val156Met) rs199474707 0.00004
NM_000258.3(MYL3):c.476C>T (p.Thr159Met) rs748832105 0.00004
NM_000258.3(MYL3):c.481+5G>A rs1005891266 0.00004
NM_000258.3(MYL3):c.245C>T (p.Ala82Val) rs752549068 0.00003
NM_000258.3(MYL3):c.477G>A (p.Thr159=) rs148365503 0.00003
NM_000258.3(MYL3):c.91C>T (p.Arg31Cys) rs377026344 0.00003
NM_000258.3(MYL3):c.105C>T (p.Val35=) rs771114109 0.00002
NM_000258.3(MYL3):c.136T>C (p.Phe46Leu) rs730880953 0.00002
NM_000258.3(MYL3):c.140C>T (p.Thr47Ile) rs778515428 0.00002
NM_000258.3(MYL3):c.187C>T (p.Arg63Cys) rs565312070 0.00002
NM_000258.3(MYL3):c.219C>T (p.Tyr73=) rs780500137 0.00002
NM_000258.3(MYL3):c.280C>T (p.Arg94Cys) rs730880961 0.00002
NM_000258.3(MYL3):c.286C>T (p.Leu96=) rs772804040 0.00002
NM_000258.3(MYL3):c.360C>T (p.His120=) rs1314822874 0.00002
NM_000258.3(MYL3):c.461G>A (p.Arg154His) rs104893749 0.00002
NM_000258.3(MYL3):c.530A>G (p.Glu177Gly) rs193922391 0.00002
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn) rs145520567 0.00002
NM_000258.3(MYL3):c.61C>T (p.Pro21Ser) rs779557153 0.00002
NM_000258.3(MYL3):c.106G>A (p.Glu36Lys) rs749941468 0.00001
NM_000258.3(MYL3):c.194C>G (p.Pro65Arg) rs730880955 0.00001
NM_000258.3(MYL3):c.220G>A (p.Gly74Arg) rs730880956 0.00001
NM_000258.3(MYL3):c.222G>A (p.Gly74=) rs144543453 0.00001
NM_000258.3(MYL3):c.235G>A (p.Val79Ile) rs150634297 0.00001
NM_000258.3(MYL3):c.241C>T (p.Arg81Trp) rs761891361 0.00001
NM_000258.3(MYL3):c.26A>G (p.Lys9Arg) rs1025864971 0.00001
NM_000258.3(MYL3):c.27G>A (p.Lys9=) rs994017710 0.00001
NM_000258.3(MYL3):c.281G>A (p.Arg94His) rs199474703 0.00001
NM_000258.3(MYL3):c.32A>T (p.Asp11Val) rs1227232995 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000258.3(MYL3):c.433A>G (p.Asn145Asp) rs1204710752 0.00001
NM_000258.3(MYL3):c.435T>C (p.Asn145=) rs774762882 0.00001
NM_000258.3(MYL3):c.465C>T (p.His155=) rs147125759 0.00001
NM_000258.3(MYL3):c.501C>T (p.Asp167=) rs552824036 0.00001
NM_000258.3(MYL3):c.575dup (p.Met193fs) rs757730888 0.00001
NM_000258.3(MYL3):c.70G>A (p.Ala24Thr) rs758048820 0.00001
NM_000258.3(MYL3):c.71C>T (p.Ala24Val) rs373278317 0.00001
NM_000258.3(MYL3):c.73C>T (p.Pro25Ser) rs369256548 0.00001
NM_000258.3(MYL3):c.100G>A (p.Glu34Lys)
NM_000258.3(MYL3):c.14A>C (p.Lys5Thr)
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000258.3(MYL3):c.170C>T (p.Ala57Val) rs139794067
NM_000258.3(MYL3):c.188G>C (p.Arg63Pro) rs139354105
NM_000258.3(MYL3):c.206T>A (p.Met69Lys) rs1575498236
NM_000258.3(MYL3):c.211A>T (p.Ile71Phe)
NM_000258.3(MYL3):c.244G>T (p.Ala82Ser)
NM_000258.3(MYL3):c.25A>G (p.Lys9Glu)
NM_000258.3(MYL3):c.263C>T (p.Thr88Ile)
NM_000258.3(MYL3):c.265C>T (p.Gln89Ter) rs1701982801
NM_000258.3(MYL3):c.278T>C (p.Leu93Pro)
NM_000258.3(MYL3):c.2T>A (p.Met1Lys)
NM_000258.3(MYL3):c.308-3C>T rs112911997
NM_000258.3(MYL3):c.36T>C (p.Asp12=) rs138567316
NM_000258.3(MYL3):c.370A>T (p.Asn124Tyr) rs1278498849
NM_000258.3(MYL3):c.400G>A (p.Val134Met) rs776163180
NM_000258.3(MYL3):c.411G>T (p.Leu137=) rs2233265
NM_000258.3(MYL3):c.413G>A (p.Arg138Gln) rs1057524652
NM_000258.3(MYL3):c.418T>C (p.Phe140Leu)
NM_000258.3(MYL3):c.419T>C (p.Phe140Ser)
NM_000258.3(MYL3):c.421G>A (p.Asp141Asn) rs1483805765
NM_000258.3(MYL3):c.432C>T (p.Gly144=)
NM_000258.3(MYL3):c.446T>C (p.Met149Thr) rs202141423
NM_000258.3(MYL3):c.447G>A (p.Met149Ile) rs730880162
NM_000258.3(MYL3):c.449G>A (p.Gly150Asp) rs1085307526
NM_000258.3(MYL3):c.450T>C (p.Gly150=)
NM_000258.3(MYL3):c.456G>T (p.Glu152Asp) rs777855362
NM_000258.3(MYL3):c.475A>T (p.Thr159Ser)
NM_000258.3(MYL3):c.477G>T (p.Thr159=) rs148365503
NM_000258.3(MYL3):c.487A>G (p.Arg163Gly) rs2106905119
NM_000258.3(MYL3):c.499G>A (p.Asp167Asn) rs1701956074
NM_000258.3(MYL3):c.49C>T (p.Pro17Ser) rs1702011848
NM_000258.3(MYL3):c.508G>C (p.Glu170Gln) rs864622538
NM_000258.3(MYL3):c.518T>C (p.Met173Thr) rs730880962
NM_000258.3(MYL3):c.549C>T (p.Ile183=) rs963631094
NM_000258.3(MYL3):c.55G>T (p.Ala19Ser)
NM_000258.3(MYL3):c.8C>A (p.Pro3His) rs536404643

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