ClinVar Miner

List of variants studied for achromatopsia 7 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_007348.4(ATF6):c.970C>T (p.Arg324Cys) rs761357250 0.00006
NM_007348.3(ATF6):c.355dup rs869320751
NM_007348.4(ATF6):c.1110dup (p.Val371fs) rs797045174
NM_007348.4(ATF6):c.1533+1G>C rs797045172
NM_007348.4(ATF6):c.1699T>A (p.Tyr567Asn) rs796065053
NM_007348.4(ATF6):c.797dup (p.Pro266_Asn267insTer) rs797045173

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