ClinVar Miner

Variants in gene RP1L1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP
NM_178857.6(RP1L1):c.1138G>A (p.Gly380Arg) rs184332984
NM_178857.6(RP1L1):c.1434C>T (p.Asp478=) rs138367868
NM_178857.6(RP1L1):c.168C>A (p.Arg56=) rs187433303
NM_178857.6(RP1L1):c.217C>T (p.Pro73Ser) rs202082944
NM_178857.6(RP1L1):c.2644C>T (p.Arg882Trp) rs148936402
NM_178857.6(RP1L1):c.273C>T (p.Ser91=) rs201810499
NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs) rs138816053
NM_178857.6(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1324_Thr1325insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs369606728
NM_178857.6(RP1L1):c.487C>G (p.Arg163Gly) rs187140236
NM_178857.6(RP1L1):c.5211G>A (p.Gly1737=) rs201594207
NM_178857.6(RP1L1):c.5713G>A (p.Gly1905Ser) rs202121941
NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter) rs201017122
NM_178857.6(RP1L1):c.652G>T (p.Val218Leu) rs77679870
NM_178857.6(RP1L1):c.7047T>C (p.Thr2349=) rs202213014
NM_178857.6(RP1L1):c.899C>T (p.Ser300Leu) rs200642524

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