ClinVar Miner

List of variants in gene combination PDZD9, UQCRC2 reported as benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_003366.4(UQCRC2):c.1278+101T>C rs2965803 0.99879
NM_003366.4(UQCRC2):c.767-108T>C rs2967156 0.99870
NM_003366.4(UQCRC2):c.1281G>A (p.Ala427=) rs7282 0.07713
NM_003366.4(UQCRC2):c.267+208A>G rs8060983 0.07090
NM_003366.4(UQCRC2):c.761G>A (p.Arg254His) rs11863893 0.06087
NM_003366.4(UQCRC2):c.1047+189G>T rs11648723 0.04066
NM_003366.4(UQCRC2):c.548G>A (p.Arg183Gln) rs4850 0.03828
NM_003366.4(UQCRC2):c.1048-7G>C rs9924667 0.03247
NM_003366.4(UQCRC2):c.613-96A>G rs9924083 0.03237
NM_003366.4(UQCRC2):c.1125-47dup rs141408124
NM_003366.4(UQCRC2):c.1279-105dup rs1036084484
NM_003366.4(UQCRC2):c.442C>A (p.Arg148Ser) rs2228473

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