ClinVar Miner

List of variants reported as benign for Leigh syndrome by Natera, Inc.

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066 0.69341
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042 0.14931
NM_133259.4(LRPPRC):c.3570-3C>T rs35113761 0.02876
NM_133259.4(LRPPRC):c.41C>G (p.Ala14Gly) rs114205971 0.02459
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=) rs35881858 0.02080
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668 0.01872
NM_024120.5(NDUFAF5):c.582C>T (p.Leu194=) rs117002283 0.01707
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) rs4494798 0.01150
NM_024120.5(NDUFAF5):c.486T>C (p.His162=) rs2273317 0.01050
NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp) rs113974315 0.00985
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe) rs116727742 0.00819
NM_133259.4(LRPPRC):c.2325A>G (p.Lys775=) rs139634347 0.00249
NM_024120.5(NDUFAF5):c.222+8_222+15del rs3831170

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