ClinVar Miner

Variants with conflicting interpretations "likely benign" and "uncertain risk allele"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain risk allele) minimum review status: Submission 2 (uncertain risk allele) method:
ClinVar version:

Total variants with conflicting interpretations: 7

HGVS dbSNP gnomAD frequency
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly) rs148168366 0.00178
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_000545.8(HNF1A):c.1722C>A (p.Ser574Arg) rs141304623 0.00103
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser) rs189032342 0.00097
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928 0.00078
NM_000545.8(HNF1A):c.703G>C (p.Glu235Gln) rs1353807357

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