ClinVar Miner

List of variants in gene VARS2 reported as benign for combined oxidative phosphorylation defect type 20

Included ClinVar conditions (1):
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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_020442.6(VARS2):c.3033C>T (p.Asp1011=) rs1043483 0.66272
NM_020442.6(VARS2):c.-28+82T>C rs1264306 0.52561
NM_020442.6(VARS2):c.1345T>C (p.Trp449Arg) rs2249464 0.50569
NM_020442.6(VARS2):c.2750G>A (p.Arg917Gln) rs9394021 0.22711
NM_020442.6(VARS2):c.1272C>T (p.Ser424=) rs2285319 0.22709
NM_020442.6(VARS2):c.574-42_574-35del rs57637932

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