ClinVar Miner

List of variants in gene MAT2A studied for cardiovascular disorder

Included ClinVar conditions (1435):
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Gene type:
ClinVar version:
Total variants: 138
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HGVS dbSNP gnomAD frequency
NM_005911.6(MAT2A):c.792C>G (p.Arg264=) rs1078004 0.51750
NM_005911.6(MAT2A):c.406-19G>A rs114500620 0.00774
NM_005911.6(MAT2A):c.108A>G (p.Gln36=) rs115257622 0.00232
NM_005911.6(MAT2A):c.501A>G (p.Leu167=) rs75623534 0.00220
NM_005911.6(MAT2A):c.318G>T (p.Val106=) rs72940560 0.00215
NM_005911.6(MAT2A):c.952-19G>A rs116037832 0.00203
NM_005911.6(MAT2A):c.813T>C (p.Tyr271=) rs149459768 0.00103
NM_005911.6(MAT2A):c.438T>C (p.Thr146=) rs143610695 0.00033
NM_005911.6(MAT2A):c.1110T>A (p.Ile370=) rs141157197 0.00030
NM_005911.6(MAT2A):c.324A>T (p.Val108=) rs377763337 0.00024
NM_005911.6(MAT2A):c.831T>C (p.His277=) rs144914741 0.00023
NM_005911.6(MAT2A):c.54C>T (p.Phe18=) rs142991697 0.00019
NM_005911.6(MAT2A):c.666A>G (p.Leu222=) rs146207015 0.00011
NM_005911.6(MAT2A):c.952-20C>T rs151049338 0.00009
NM_005911.6(MAT2A):c.721A>G (p.Ile241Val) rs578215416 0.00008
NM_005911.6(MAT2A):c.729C>T (p.His243=) rs757299832 0.00008
NM_005911.6(MAT2A):c.1059C>T (p.Phe353=) rs199754006 0.00006
NM_005911.6(MAT2A):c.951+11T>C rs775531241 0.00006
NM_005911.6(MAT2A):c.1027A>G (p.Arg343Gly) rs750105786 0.00004
NM_005911.6(MAT2A):c.336A>G (p.Gln112=) rs746976689 0.00004
NM_005911.6(MAT2A):c.406-3T>C rs747379918 0.00004
NM_005911.6(MAT2A):c.768+18C>G rs373480829 0.00004
NM_005911.6(MAT2A):c.769-20C>T rs540363632 0.00004
NM_005911.6(MAT2A):c.816C>A (p.Gly272=) rs182092279 0.00004
NM_005911.6(MAT2A):c.988A>G (p.Ile330Val) rs753175779 0.00004
NM_005911.6(MAT2A):c.613A>G (p.Ile205Val) rs141849127 0.00003
NM_005911.6(MAT2A):c.698C>T (p.Ala233Val) rs373600407 0.00003
NM_005911.6(MAT2A):c.249T>C (p.Val83=) rs370638648 0.00002
NM_005911.6(MAT2A):c.32C>T (p.Ala11Val) rs139547506 0.00002
NM_005911.6(MAT2A):c.477G>A (p.Lys159=) rs1016317798 0.00002
NM_005911.6(MAT2A):c.951+7A>G rs547236987 0.00002
NM_005911.6(MAT2A):c.1005T>C (p.Tyr335=) rs151053752 0.00001
NM_005911.6(MAT2A):c.1049A>T (p.Lys350Met) rs371262419 0.00001
NM_005911.6(MAT2A):c.1152C>T (p.Ser384=) rs747959376 0.00001
NM_005911.6(MAT2A):c.11A>C (p.Gln4Pro) rs756268499 0.00001
NM_005911.6(MAT2A):c.17A>G (p.Asn6Ser) rs779310038 0.00001
NM_005911.6(MAT2A):c.315C>T (p.Asn105=) rs974451464 0.00001
NM_005911.6(MAT2A):c.377A>G (p.Asn126Ser) rs770828359 0.00001
NM_005911.6(MAT2A):c.511G>A (p.Gly171Ser) rs767382347 0.00001
NM_005911.6(MAT2A):c.840T>C (p.Gly280=) rs748623458 0.00001
NM_005911.6(MAT2A):c.939G>A (p.Arg313=) rs1691506636 0.00001
NM_005911.6(MAT2A):c.952-3T>C rs367778290 0.00001
NM_005911.6(MAT2A):c.990C>T (p.Ile330=) rs1387934407 0.00001
NM_005911.6(MAT2A):c.1011C>T (p.Thr337=)
NM_005911.6(MAT2A):c.1019A>G (p.Lys340Arg)
NM_005911.6(MAT2A):c.1029A>G (p.Arg343=) rs1488369439
NM_005911.6(MAT2A):c.1053G>T (p.Lys351Asn) rs2103919654
NM_005911.6(MAT2A):c.1086-18C>T
NM_005911.6(MAT2A):c.1086-8T>C rs1691535764
NM_005911.6(MAT2A):c.1110T>G (p.Ile370Met) rs141157197
NM_005911.6(MAT2A):c.1158A>G (p.Pro386=)
NM_005911.6(MAT2A):c.1172A>G (p.Lys391Arg) rs1236378217
NM_005911.6(MAT2A):c.1173A>G (p.Lys391=)
NM_005911.6(MAT2A):c.11A>G (p.Gln4Arg)
NM_005911.6(MAT2A):c.120T>C (p.Ala40=)
NM_005911.6(MAT2A):c.12G>A (p.Gln4=)
NM_005911.6(MAT2A):c.141G>A (p.Gln47=) rs1573307911
NM_005911.6(MAT2A):c.169+13T>C
NM_005911.6(MAT2A):c.169+19del
NM_005911.6(MAT2A):c.16A>C (p.Asn6His)
NM_005911.6(MAT2A):c.170-11_170-10del rs1175001476
NM_005911.6(MAT2A):c.170-13C>T
NM_005911.6(MAT2A):c.219C>T (p.Ser73=)
NM_005911.6(MAT2A):c.246G>A (p.Val82=)
NM_005911.6(MAT2A):c.25C>T (p.His9Tyr) rs909244613
NM_005911.6(MAT2A):c.276T>C (p.Tyr92=) rs1573308038
NM_005911.6(MAT2A):c.286T>G (p.Ser96Ala) rs2103916591
NM_005911.6(MAT2A):c.288C>T (p.Ser96=) rs1691471820
NM_005911.6(MAT2A):c.292+12T>C
NM_005911.6(MAT2A):c.292+14A>C
NM_005911.6(MAT2A):c.292+17T>C
NM_005911.6(MAT2A):c.293-15G>T rs992234117
NM_005911.6(MAT2A):c.305A>C (p.Lys102Thr)
NM_005911.6(MAT2A):c.317T>G (p.Val106Gly) rs2103917082
NM_005911.6(MAT2A):c.374G>A (p.Arg125Lys)
NM_005911.6(MAT2A):c.37A>G (p.Ile13Val)
NM_005911.6(MAT2A):c.384A>C (p.Glu128Asp)
NM_005911.6(MAT2A):c.405+16G>T
NM_005911.6(MAT2A):c.406-10_406-8del rs2103917362
NM_005911.6(MAT2A):c.406-4_406-3dup rs1553443566
NM_005911.6(MAT2A):c.444G>A (p.Glu148=)
NM_005911.6(MAT2A):c.460A>G (p.Ile154Val)
NM_005911.6(MAT2A):c.480A>C (p.Leu160=)
NM_005911.6(MAT2A):c.504C>T (p.Arg168=)
NM_005911.6(MAT2A):c.537T>C (p.Asp179=)
NM_005911.6(MAT2A):c.549+19G>A
NM_005911.6(MAT2A):c.549+19G>C
NM_005911.6(MAT2A):c.549A>G (p.Gln183=)
NM_005911.6(MAT2A):c.550-12G>A
NM_005911.6(MAT2A):c.550-17C>T
NM_005911.6(MAT2A):c.550-19G>A
NM_005911.6(MAT2A):c.550-7dup
NM_005911.6(MAT2A):c.55C>T (p.Leu19Phe) rs1691389356
NM_005911.6(MAT2A):c.574C>T (p.Arg192Ter)
NM_005911.6(MAT2A):c.614T>C (p.Ile205Thr)
NM_005911.6(MAT2A):c.658G>A (p.Asp220Asn)
NM_005911.6(MAT2A):c.663C>T (p.Ala221=) rs41290031
NM_005911.6(MAT2A):c.66A>C (p.Ser22=)
NM_005911.6(MAT2A):c.690T>C (p.Val230=)
NM_005911.6(MAT2A):c.697G>C (p.Ala233Pro)
NM_005911.6(MAT2A):c.6C>T (p.Asn2=) rs781289274
NM_005911.6(MAT2A):c.72G>T (p.Ser24=)
NM_005911.6(MAT2A):c.741T>C (p.Ser247=)
NM_005911.6(MAT2A):c.75C>T (p.Val25=) rs1170686756
NM_005911.6(MAT2A):c.768+13del
NM_005911.6(MAT2A):c.768+24dup
NM_005911.6(MAT2A):c.768+8C>G
NM_005911.6(MAT2A):c.769-13C>T
NM_005911.6(MAT2A):c.769-19_769-18dup
NM_005911.6(MAT2A):c.771T>G (p.Gly257=)
NM_005911.6(MAT2A):c.795A>G (p.Lys265=)
NM_005911.6(MAT2A):c.800T>C (p.Ile267Thr) rs2103918667
NM_005911.6(MAT2A):c.810T>C (p.Thr270=)
NM_005911.6(MAT2A):c.816C>T (p.Gly272=)
NM_005911.6(MAT2A):c.84C>A (p.Gly28=)
NM_005911.6(MAT2A):c.870C>T (p.Val290=) rs777357586
NM_005911.6(MAT2A):c.876T>C (p.Arg292=)
NM_005911.6(MAT2A):c.891T>C (p.Ala297=)
NM_005911.6(MAT2A):c.8G>A (p.Gly3Glu) rs1691387581
NM_005911.6(MAT2A):c.91+14C>T
NM_005911.6(MAT2A):c.91+17A>C
NM_005911.6(MAT2A):c.91+19G>A
NM_005911.6(MAT2A):c.91+20C>T
NM_005911.6(MAT2A):c.92-5dup
NM_005911.6(MAT2A):c.92-6T>C rs1273216076
NM_005911.6(MAT2A):c.92-8T>C
NM_005911.6(MAT2A):c.951+12_951+13del
NM_005911.6(MAT2A):c.951+13TA[2] rs748473561
NM_005911.6(MAT2A):c.951+14A>G
NM_005911.6(MAT2A):c.951+20C>G
NM_005911.6(MAT2A):c.951+20C>T
NM_005911.6(MAT2A):c.952-20del
NM_005911.6(MAT2A):c.952-3dup rs139344458
NM_005911.6(MAT2A):c.952-4T>C rs370477461
NM_005911.6(MAT2A):c.952-5T>C rs1691515345
NM_005911.6(MAT2A):c.960T>C (p.Tyr320=)
NM_005911.6(MAT2A):c.981A>G (p.Pro327=)
NM_005911.6(MAT2A):c.996T>C (p.Ile332=) rs1314988891

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