ClinVar Miner

Variants in gene DYNC1H1 with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln) rs397509412
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.1793G>T (p.Arg598Leu) rs879254085
NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln) rs797044901
NM_001376.5(DYNC1H1):c.5884C>T (p.Arg1962Cys) rs879253881
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) rs1057518961
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738

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