ClinVar Miner

Variants in gene ATP6V1B1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=) rs147576439 0.00080
NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr) rs527738649 0.00023
NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser) rs111306070 0.00020
NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=) rs372223196 0.00019
NM_001692.4(ATP6V1B1):c.926A>G (p.Glu309Gly) rs201556073 0.00012
NM_001692.4(ATP6V1B1):c.1061-13A>G rs200724195 0.00009
NM_001692.4(ATP6V1B1):c.669C>T (p.Ile223=) rs372233648 0.00009
NM_001692.4(ATP6V1B1):c.1089G>A (p.Thr363=) rs782584396 0.00002
NM_001692.4(ATP6V1B1):c.1276G>A (p.Val426Met) rs531239712 0.00002
NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=) rs1332086842 0.00001
NM_001692.4(ATP6V1B1):c.1249-15_1249-11del rs886056273
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762

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