ClinVar Miner

List of variants reported as benign for Mitochondrial DNA depletion syndrome 9 by Invitae

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_003849.4(SUCLG1):c.589+16A>G rs115384987 0.04250
NM_003849.4(SUCLG1):c.201+9A>G rs116492610 0.01020
NM_003849.4(SUCLG1):c.825+18A>G rs143229361 0.00323
NM_003849.4(SUCLG1):c.291C>T (p.Gly97=) rs35996428 0.00183
NM_003849.4(SUCLG1):c.900C>T (p.Ala300=) rs113840224 0.00155
NM_003849.4(SUCLG1):c.309T>C (p.Thr103=) rs142284503 0.00113
NM_003849.4(SUCLG1):c.202-4T>C rs141973418 0.00063
NM_003849.4(SUCLG1):c.590-7C>T rs537348295 0.00005
NM_003849.4(SUCLG1):c.531+15del rs769785912
NM_003849.4(SUCLG1):c.531+9dup rs769785912
NM_003849.4(SUCLG1):c.98-13_98-11del rs56733272
NM_003849.4(SUCLG1):c.98-14_98-11del rs56733272

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