ClinVar Miner

Variants in gene SLC7A7 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: 19
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HGVS dbSNP gnomAD frequency
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met) rs139415285 0.00235
NM_003982.4(SLC7A7):c.234C>T (p.Val78=) rs139776370 0.00055
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=) rs146720775 0.00039
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=) rs139270936 0.00013
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys) rs11568437 0.00011
NM_003982.4(SLC7A7):c.549A>C (p.Val183=) rs146945921 0.00011
NM_003982.4(SLC7A7):c.1128A>C (p.Glu376Asp) rs139619724 0.00009
NM_003982.4(SLC7A7):c.123C>T (p.Asn41=) rs367673752 0.00008
NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=) rs765682604 0.00003
NM_003982.4(SLC7A7):c.342C>T (p.Phe114=) rs777682875 0.00002
NM_003982.4(SLC7A7):c.1125G>C (p.Val375=) rs371346432 0.00001
NM_003982.4(SLC7A7):c.1497A>C (p.Gly499=) rs1566438384 0.00001
NM_003982.4(SLC7A7):c.585G>A (p.Leu195=) rs768649205 0.00001
NM_003982.4(SLC7A7):c.998+9G>C rs1350841635 0.00001
NM_003982.4(SLC7A7):c.1095+6T>C rs531862402
NM_003982.4(SLC7A7):c.1263G>A (p.Pro421=) rs1043886041
NM_003982.4(SLC7A7):c.499+9G>C rs893853391
NM_003982.4(SLC7A7):c.591G>A (p.Ala197=) rs750720946
NM_003982.4(SLC7A7):c.931A>G (p.Ile311Val) rs539843065

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