ClinVar Miner

List of variants studied for Myopathy, lactic acidosis, and sideroblastic anemia by Natera, Inc.

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_025215.6(PUS1):c.1214C>T (p.Thr405Met) rs149378338 0.00233
NM_025215.6(PUS1):c.545-7C>T rs201541270 0.00128
NM_025215.6(PUS1):c.1020C>T (p.Phe340=) rs202059921 0.00061
NM_025215.6(PUS1):c.111C>T (p.Pro37=) rs543944505 0.00010
NM_025215.6(PUS1):c.207C>G (p.Leu69=) rs140067992 0.00009
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp) rs776342428 0.00004
NM_025215.6(PUS1):c.75-5C>T rs1363622622 0.00003
NM_025215.6(PUS1):c.789C>G (p.Ile263Met) rs755760215 0.00003
NM_025215.6(PUS1):c.127C>T (p.Pro43Ser) rs928144275 0.00002
NM_025215.6(PUS1):c.41G>A (p.Arg14Gln) rs146103500 0.00001
NM_025215.6(PUS1):c.966G>A (p.Lys322=) rs746905159 0.00001
NM_025215.6(PUS1):c.973G>A (p.Val325Met) rs1156671661 0.00001
NM_025215.6(PUS1):c.454dup (p.Ala152fs) rs1555268564
NM_025215.6(PUS1):c.737A>G (p.His246Arg) rs1891063731

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