ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.12760G>A (p.Gly4254Arg)
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.1826T>C (p.Ile609Thr) rs2047933165
NM_001376.5(DYNC1H1):c.2252G>A (p.Arg751Gln) rs2141275001
NM_001376.5(DYNC1H1):c.4808G>C (p.Arg1603Thr) rs1555409418
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) rs1057518961
NM_001376.5(DYNC1H1):c.7072C>T (p.Arg2358Cys) rs879254019
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043

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