ClinVar Miner

Variants with conflicting interpretations "pathogenic" from UCLA Clinical Genomics Center, UCLA and "likely pathogenic" from any submitter

Minimum review status of the submission from UCLA Clinical Genomics Center, UCLA: Collection method of the submission from UCLA Clinical Genomics Center, UCLA:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln) rs863224923 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_000133.4(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000206.3(IL2RG):c.455T>C (p.Val152Ala) rs193922348
NM_000834.5(GRIN2B):c.2044C>T (p.Arg682Cys) rs387906636
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs) rs797046035
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)

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