ClinVar Miner

List of variants in gene ACD reported as not provided for Hoyeraal-Hreidarsson syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001082486.2(ACD):c.22G>A (p.Val8Ile) rs149365469 0.00053
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120 0.00002
NM_001082486.2(ACD):c.250_252del (p.Lys84del) rs797045144

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