ClinVar Miner

Variants in gene PALLD with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_001166108.2(PALLD):c.1965-12953C>T rs528879194 0.00493
NM_001166108.2(PALLD):c.1273A>T (p.Thr425Ser) rs140454899 0.00299
NM_001166108.2(PALLD):c.502C>G (p.Leu168Val) rs115607645 0.00288
NM_001166108.2(PALLD):c.764G>A (p.Arg255His) rs146018183 0.00287
NM_001166108.2(PALLD):c.1965-12665G>C rs535155432 0.00122
NM_001166108.2(PALLD):c.1394G>A (p.Arg465His) rs115372194 0.00111
NM_001166108.2(PALLD):c.909A>T (p.Arg303Ser) rs138897963 0.00108
NM_001166108.2(PALLD):c.1849C>T (p.Arg617Cys) rs138283237 0.00102
NM_001166108.2(PALLD):c.1965-12594T>G rs587780760 0.00099
NM_001166108.2(PALLD):c.365C>T (p.Pro122Leu) rs116158771 0.00064
NM_001166108.2(PALLD):c.8G>T (p.Gly3Val) rs189385916 0.00036
NM_001166108.2(PALLD):c.-8G>A rs372273201 0.00025
NM_001166108.2(PALLD):c.1965-12616C>T rs121908291 0.00025
NM_001166108.2(PALLD):c.1965-12565G>A rs368350042 0.00004
NM_001166108.2(PALLD):c.1965-12755A>C rs863224385
NM_001166108.2(PALLD):c.1965-12758G>C rs777359545
NM_001166108.2(PALLD):c.1965-12764G>C rs863224384
NM_001166108.2(PALLD):c.1965-12771CGCCCC[3] rs730882137

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