ClinVar Miner

List of variants studied for Leigh syndrome by Baylor Genetics

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr) rs142658611 0.00081
NM_002495.4(NDUFS4):c.80T>A (p.Val27Asp) rs145347909 0.00055
NM_152416.4(NDUFAF6):c.715-3C>A rs200620409 0.00054
NM_001303.4(COX10):c.1027T>C (p.Cys343Arg) rs200818252 0.00041
NM_005002.5(NDUFA9):c.253C>T (p.Arg85Trp) rs71579253 0.00026
NM_018838.5(NDUFA12):c.278T>C (p.Met93Thr) rs140235371 0.00022
NM_001303.4(COX10):c.624+4A>G rs199668725 0.00017
NM_152416.4(NDUFAF6):c.773T>C (p.Val258Ala) rs745941126 0.00017
NM_001303.4(COX10):c.311C>T (p.Pro104Leu) rs202207627 0.00016
NM_001303.4(COX10):c.1064G>A (p.Arg355His) rs757204220 0.00014
NM_017547.4(FOXRED1):c.20C>T (p.Pro7Leu) rs141392346 0.00009
NM_001303.4(COX10):c.1192C>T (p.Arg398Cys) rs368724576 0.00006
NM_024407.5(NDUFS7):c.52C>T (p.Arg18Cys) rs769894226 0.00006
NM_001303.4(COX10):c.394G>T (p.Asp132Tyr) rs141549844 0.00004
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter) rs137852863 0.00004
NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser) rs369602258 0.00003
NM_017547.4(FOXRED1):c.1454T>A (p.Ile485Asn) rs770063137 0.00003
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr) rs201732170 0.00003
NM_001303.4(COX10):c.1186G>A (p.Gly396Ser) rs142336139 0.00001
NM_002495.4(NDUFS4):c.73C>T (p.Leu25Phe) rs776441221 0.00001
NM_002496.4(NDUFS8):c.343A>G (p.Lys115Glu) rs764276946 0.00001
NM_003172.4(SURF1):c.185T>G (p.Leu62Arg) rs782125974 0.00001
NM_003172.4(SURF1):c.850G>A (p.Ala284Thr) rs781902619 0.00001
NM_004544.4(NDUFA10):c.1000-12358G>A rs1265529467 0.00001
NM_005002.5(NDUFA9):c.142C>T (p.Arg48Cys) rs145275641 0.00001
NM_017547.4(FOXRED1):c.734-1G>C rs1296948086 0.00001
NM_152416.4(NDUFAF6):c.116C>T (p.Pro39Leu) rs753206462 0.00001
NM_152416.4(NDUFAF6):c.92C>G (p.Ala31Gly) rs897029989 0.00001
NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg) rs1057521059
NM_002488.5(NDUFA2):c.31G>C (p.Gly11Arg) rs375905956
NM_002496.4(NDUFS8):c.53G>T (p.Arg18Leu) rs201017561
NM_152416.4(NDUFAF6):c.8C>G (p.Ala3Gly) rs760443320

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