ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Molecular Diagnostics Lab, Nemours Children's Health, Delaware and "likely pathogenic" from any submitter

Minimum review status of the submission from Molecular Diagnostics Lab, Nemours Children's Health, Delaware: Collection method of the submission from Molecular Diagnostics Lab, Nemours Children's Health, Delaware:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000116.5(TAFAZZIN):c.777+1G>A rs2068606932
NM_000344.4(SMN1):c.584del (p.Pro195fs) rs1561499748
NM_000344.4(SMN1):c.93_96dup (p.Ile33Ter) rs1554081950
NM_001079668.3(NKX2-1):c.464-9C>A
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter) rs267608438
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs) rs267608520
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230

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