List of variants reported as likely pathogenic for Leigh syndrome by Counsyl

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Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_133259.4(LRPPRC):c.1723C>T (p.Arg575Ter)	rs774934005	0.00001
NM_133259.4(LRPPRC):c.254G>A (p.Trp85Ter)	rs1453934366	0.00001
NM_133259.4(LRPPRC):c.2755C>T (p.Arg919Ter)	rs1166980943	0.00001
NM_133259.4(LRPPRC):c.4128+1G>A	rs1475772376	0.00001
NM_133259.4(LRPPRC):c.650+1G>C	rs1249427615	0.00001
NM_133259.4(LRPPRC):c.1091C>G (p.Ser364Ter)	rs1553410995
NM_133259.4(LRPPRC):c.1195del (p.Glu399fs)	rs1553410876
NM_133259.4(LRPPRC):c.1201C>T (p.Gln401Ter)	rs1553410866
NM_133259.4(LRPPRC):c.1261+2T>C	rs1553410852
NM_133259.4(LRPPRC):c.1385del (p.Leu462fs)	rs1553408603
NM_133259.4(LRPPRC):c.1577C>A (p.Ser526Ter)	rs896524026
NM_133259.4(LRPPRC):c.1589C>A (p.Ser530Ter)	rs775735922
NM_133259.4(LRPPRC):c.1612C>T (p.Gln538Ter)	rs1553406772
NM_133259.4(LRPPRC):c.1722_1723del (p.Gly576fs)	rs750343121
NM_133259.4(LRPPRC):c.1842+2T>A	rs1553404194
NM_133259.4(LRPPRC):c.1865_1868del (p.Ile622fs)	rs752914914
NM_133259.4(LRPPRC):c.1970_1971del (p.Val657fs)	rs1553403879
NM_133259.4(LRPPRC):c.2080-1G>C	rs1553403596
NM_133259.4(LRPPRC):c.2296+1G>A	rs1553403303
NM_133259.4(LRPPRC):c.2450T>A (p.Leu817Ter)	rs1301842578
NM_133259.4(LRPPRC):c.2505-1G>T	rs1553400727
NM_133259.4(LRPPRC):c.251_254del (p.Asp84fs)	rs1553413047
NM_133259.4(LRPPRC):c.2545_2558del (p.Tyr849fs)	rs1553400685
NM_133259.4(LRPPRC):c.2736+1G>T	rs1553400391
NM_133259.4(LRPPRC):c.2737-1G>T	rs1553398334
NM_133259.4(LRPPRC):c.2984T>G (p.Leu995Ter)	rs1553396232
NM_133259.4(LRPPRC):c.2T>A (p.Met1Lys)	rs1160846305
NM_133259.4(LRPPRC):c.3003_3006del (p.Glu1002fs)	rs1300725076
NM_133259.4(LRPPRC):c.3045G>A (p.Trp1015Ter)	rs1202515342
NM_133259.4(LRPPRC):c.3673_3676del (p.Lys1224_Val1225insTer)	rs1553391303
NM_133259.4(LRPPRC):c.3G>A (p.Met1Ile)	rs1553416989
NM_133259.4(LRPPRC):c.4128+2T>G	rs1553388067
NM_133259.4(LRPPRC):c.589C>T (p.Arg197Ter)	rs989113962
NM_133259.4(LRPPRC):c.600C>A (p.Tyr200Ter)	rs1553411751
NM_133259.4(LRPPRC):c.601C>T (p.Gln201Ter)	rs1553411748

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