ClinVar Miner

Variants in gene DNAI1 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_012144.4(DNAI1):c.297A>G (p.Gln99=) rs77344166 0.01778
NM_012144.4(DNAI1):c.81+5del rs200411544 0.00175
NM_012144.4(DNAI1):c.1878G>A (p.Ala626=) rs146244319 0.00063
NM_012144.4(DNAI1):c.1923C>T (p.His641=) rs145218397 0.00056
NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser) rs182015909 0.00003

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