ClinVar Miner

Variants in gene CHRND with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_000751.3(CHRND):c.1047+9T>C rs3762528 0.07349
NM_000751.3(CHRND):c.*424C>T rs4973046 0.06579
NM_000751.3(CHRND):c.120G>A (p.Lys40=) rs55921262 0.03225
NM_000751.3(CHRND):c.243C>T (p.His81=) rs115841867 0.00919
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127 0.00239
NM_000751.3(CHRND):c.1530C>T (p.Asn510=) rs114463490 0.00175
NM_000751.3(CHRND):c.1400G>A (p.Arg467His) rs148939701 0.00096
NM_000751.3(CHRND):c.821-52_821-18del rs530117757

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