ClinVar Miner

Variants in gene DNAAF11 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_012472.6(DNAAF11):c.31C>T (p.Arg11Trp) rs115536785 0.00093
NM_012472.6(DNAAF11):c.232A>G (p.Ile78Val) rs146175329 0.00083
NM_012472.6(DNAAF11):c.719T>C (p.Leu240Ser) rs147849568 0.00081
NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=) rs149631064 0.00058
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu) rs139131485 0.00036
NM_012472.6(DNAAF11):c.178+13A>G rs200580615 0.00019
NM_012472.6(DNAAF11):c.974+14C>A rs780037666 0.00006
NM_012472.6(DNAAF11):c.408A>G (p.Val136=) rs762081490 0.00003
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu) rs141945265

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