ClinVar Miner

List of variants studied for Hoyeraal-Hreidarsson syndrome by GeneReviews

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120 0.00002
NM_001082486.2(ACD):c.250_252del (p.Lys84del) rs797045144
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) rs28936072
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305

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