ClinVar Miner

Variants with conflicting interpretations "uncertain significance" and "association"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (association) minimum review status: Submission 2 (association) method:
ClinVar version:

Total variants with conflicting interpretations: 10

NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_002108.3(HAL):c.1287+2T>C rs141634423
NM_007194.4(CHEK2):c.1085G>A (p.Cys362Tyr) rs767306337
NM_015100.4(POGZ):c.1426C>T (p.Arg476Trp) rs267598016
NM_015100.4(POGZ):c.3607G>A (p.Glu1203Lys) rs756483529
NM_015100.4(POGZ):c.757C>T (p.Pro253Ser) rs926772662
NM_024675.3(PALB2):c.2897T>C (p.Ile966Thr) rs587780214
Single allele

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