ClinVar Miner

List of variants studied for Myopathy, lactic acidosis, and sideroblastic anemia 2

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001040436.3(YARS2):c.*209G>C rs10844337 0.15609
NM_001040436.3(YARS2):c.*643G>A rs11052214 0.14502
NM_001040436.3(YARS2):c.291C>T (p.Gly97=) rs11539444 0.14354
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) rs11539445 0.14334
NM_001040436.3(YARS2):c.1026G>A (p.Arg342=) rs35339227 0.02168
NM_001040436.3(YARS2):c.*191T>C rs144235100 0.01314
NM_001040436.3(YARS2):c.*162A>G rs11052215 0.01096
NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) rs148729348 0.00975
NM_001040436.3(YARS2):c.1103+18T>C rs190343859 0.00622
NM_001040436.3(YARS2):c.342C>T (p.Gly114=) rs115606831 0.00371
NM_001040436.3(YARS2):c.*469C>T rs182429712 0.00179
NM_001040436.3(YARS2):c.456G>A (p.Ala152=) rs201940521 0.00157
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp) rs149447502 0.00151
NM_001040436.3(YARS2):c.*360A>G rs567955032 0.00069
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln) rs147630375 0.00047
NM_001040436.3(YARS2):c.870T>C (p.Val290=) rs142067801 0.00041
NM_001040436.3(YARS2):c.*24A>G rs368305831 0.00021
NM_001040436.3(YARS2):c.934G>C (p.Asp312His) rs190043383 0.00013
NM_001040436.3(YARS2):c.180G>A (p.Glu60=) rs137922867 0.00011
NM_001040436.3(YARS2):c.819A>G (p.Leu273=) rs149781186 0.00011
NM_001040436.3(YARS2):c.*142T>C rs190589666 0.00010
NM_001040436.3(YARS2):c.*627A>T rs886049303 0.00009
NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser) rs150304121 0.00009
NM_001040436.3(YARS2):c.751A>G (p.Ile251Val) rs372098364 0.00007
NM_001040436.3(YARS2):c.*478G>A rs925773588 0.00006
NM_001040436.3(YARS2):c.810C>T (p.Thr270=) rs145906298 0.00006
NM_001040436.3(YARS2):c.477C>T (p.Phe159=) rs774325742 0.00005
NM_001040436.3(YARS2):c.*595G>A rs961010458 0.00004
NM_001040436.3(YARS2):c.1241G>A (p.Arg414His) rs762786998 0.00004
NM_001040436.3(YARS2):c.933C>G (p.Asp311Glu) rs745595833 0.00004
NM_001040436.2(YARS2):c.-72C>G rs552674058 0.00002
NM_001040436.3(YARS2):c.1078C>T (p.Arg360Ter) rs587777214 0.00002
NM_001040436.3(YARS2):c.626A>G (p.Lys209Arg) rs541554381 0.00002
NM_001040436.3(YARS2):c.*230A>G rs371690622 0.00001
NM_001040436.3(YARS2):c.234T>C (p.Cys78=) rs565102282 0.00001
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter) rs762813092 0.00001
NM_001040436.3(YARS2):c.917T>C (p.Phe306Ser) rs376934259 0.00001
NM_001040436.2(YARS2):c.-31A>G rs557243101
NM_001040436.3(YARS2):c.*377G>A rs1955646004
NM_001040436.3(YARS2):c.*406C>T rs145618550
NM_001040436.3(YARS2):c.*62G>A rs527443669
NM_001040436.3(YARS2):c.1241G>T (p.Arg414Leu)
NM_001040436.3(YARS2):c.1303A>G (p.Ser435Gly) rs587777215
NM_001040436.3(YARS2):c.137G>A (p.Gly46Asp) rs587777213
NM_001040436.3(YARS2):c.1427A>G (p.Gln476Arg) rs1955656296
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) rs267607180
NM_001040436.3(YARS2):c.30C>T (p.Ser10=) rs886049305
NM_001040436.3(YARS2):c.327C>G (p.Ile109Met) rs886049304
NM_001040436.3(YARS2):c.359dup (p.Asp121fs) rs797045077
NM_001040436.3(YARS2):c.572G>A (p.Gly191Asp) rs11539445
NM_001040436.3(YARS2):c.7G>A (p.Ala3Thr) rs772348768
NM_001040436.3(YARS2):c.930G>A (p.Pro310=) rs147551647
NM_001040436.3(YARS2):c.98C>A (p.Ser33Ter)

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