ClinVar Miner

List of variants in gene MARVELD2 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001038603.3(MARVELD2):c.98C>T (p.Thr33Ile) rs1185246 0.47503
NM_001038603.3(MARVELD2):c.364G>A (p.Ala122Thr) rs140764671 0.00473
NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg) rs139854607 0.00464
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422 0.00170
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168 0.00127
NM_001038603.3(MARVELD2):c.615C>T (p.Ala205=) rs146796266 0.00126
NM_001038603.3(MARVELD2):c.389T>A (p.Leu130His) rs144717803 0.00114
NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=) rs138680809 0.00096
NM_001038603.3(MARVELD2):c.1248A>C (p.Thr416=) rs146746360 0.00087
NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu) rs150434290 0.00053
NM_001038603.3(MARVELD2):c.1033A>G (p.Met345Val) rs142560436 0.00030
NM_001038603.3(MARVELD2):c.585A>G (p.Ile195Met) rs144870558 0.00029
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=) rs143592561 0.00023
NM_001038603.3(MARVELD2):c.211A>G (p.Ile71Val) rs150773481 0.00018
NM_001038603.3(MARVELD2):c.*2G>A rs530892254 0.00017
NM_001038603.3(MARVELD2):c.1310T>C (p.Ile437Thr) rs140452135 0.00016
NM_001038603.3(MARVELD2):c.868C>T (p.Pro290Ser) rs757498916 0.00014
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_001038603.3(MARVELD2):c.288C>A (p.Asp96Glu) rs73113102 0.00008
NM_001038603.3(MARVELD2):c.592G>A (p.Val198Met) rs201914751 0.00007
NM_001038603.3(MARVELD2):c.1006C>T (p.Arg336Trp) rs779060557 0.00006
NM_001038603.3(MARVELD2):c.115C>T (p.Arg39Trp) rs145027254 0.00006
NM_001038603.3(MARVELD2):c.306G>A (p.Pro102=) rs181575833 0.00006
NM_001038603.3(MARVELD2):c.60C>T (p.Asp20=) rs1264640823 0.00006
NM_001038603.3(MARVELD2):c.1438C>G (p.Leu480Val) rs767671073 0.00005
NM_001038603.3(MARVELD2):c.1461T>G (p.Asp487Glu) rs727503161 0.00003
NM_001038603.3(MARVELD2):c.*1C>T rs570049997 0.00002
NM_001038603.3(MARVELD2):c.331G>A (p.Asp111Asn) rs397516553 0.00002
NM_001038603.3(MARVELD2):c.494A>G (p.His165Arg) rs727503157 0.00002
NM_001038603.3(MARVELD2):c.1059A>G (p.Ile353Met) rs727503158 0.00001
NM_001038603.3(MARVELD2):c.1095A>G (p.Leu365=) rs727503159 0.00001
NM_001038603.3(MARVELD2):c.1147-2A>G rs763062791 0.00001
NM_001038603.3(MARVELD2):c.1204G>A (p.Asp402Asn) rs727503160 0.00001
NM_001038603.3(MARVELD2):c.1331+1G>A rs762352115 0.00001
NM_001038603.3(MARVELD2):c.1479G>A (p.Leu493=) rs752765358 0.00001
NM_001038603.3(MARVELD2):c.771C>T (p.Leu257=) rs571015098 0.00001
NM_001038603.3(MARVELD2):c.1147-9T>G rs299099
NM_001038603.3(MARVELD2):c.1286C>T (p.Pro429Leu) rs1554047535
NM_001038603.3(MARVELD2):c.156A>T (p.Pro52=) rs138816138
NM_001038603.3(MARVELD2):c.504A>G (p.Thr168=) rs568560843
NM_001038603.3(MARVELD2):c.919G>A (p.Ala307Thr) rs779068129

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