ClinVar Miner

Variants in gene AP4E1 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: 10
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HGVS dbSNP gnomAD frequency
NM_007347.5(AP4E1):c.1276A>C (p.Ile426Leu) rs148817957 0.00109
NM_007347.5(AP4E1):c.258T>C (p.Tyr86=) rs143624283 0.00042
NM_007347.5(AP4E1):c.1852G>A (p.Val618Ile) rs142215198 0.00034
NM_007347.5(AP4E1):c.1624A>G (p.Met542Val) rs542940704 0.00024
NM_007347.5(AP4E1):c.2932C>T (p.Pro978Ser) rs141278078 0.00018
NM_007347.5(AP4E1):c.791A>G (p.Asn264Ser) rs145541719 0.00013
NM_007347.5(AP4E1):c.2416G>A (p.Glu806Lys) rs756384880 0.00003
NM_007347.5(AP4E1):c.1458A>G (p.Gln486=) rs557252541 0.00001
NM_007347.5(AP4E1):c.1694C>A (p.Ala565Glu) rs142762839
NM_007347.5(AP4E1):c.1694C>T (p.Ala565Val) rs142762839

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