ClinVar Miner

List of variants in gene DNAJB13 studied for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_153614.4(DNAJB13):c.279T>C (p.His93=) rs653263 0.57865
NM_153614.4(DNAJB13):c.374T>G (p.Phe125Cys) rs139317756 0.00181
NM_153614.4(DNAJB13):c.757G>A (p.Asp253Asn) rs140556652 0.00149
NM_153614.4(DNAJB13):c.272T>G (p.Val91Gly) rs145909750 0.00025
NM_153614.4(DNAJB13):c.106T>G (p.Ser36Ala) rs144741417
NM_153614.4(DNAJB13):c.173-1G>A rs1565171522
NM_153614.4(DNAJB13):c.664C>T (p.Arg222Cys)
NM_153614.4(DNAJB13):c.68+1G>C rs775700619
NM_153614.4(DNAJB13):c.833T>G (p.Met278Arg) rs754776389
NM_153614.4(DNAJB13):c.92_95delinsGAG (p.His31fs)

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