ClinVar Miner

List of variants studied for Ayme-Gripp syndrome by Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005360.5(MAF):c.161C>T (p.Ser54Leu) rs727502766
NM_005360.5(MAF):c.172A>G (p.Thr58Ala) rs727502767
NM_005360.5(MAF):c.173C>T (p.Thr58Ile) rs727502769
NM_005360.5(MAF):c.176C>A (p.Pro59His) rs727502770
NM_005360.5(MAF):c.176C>T (p.Pro59Leu) rs727502770
NM_005360.5(MAF):c.185C>G (p.Thr62Arg) rs727502771
NM_005360.5(MAF):c.206C>G (p.Pro69Arg) rs727502768

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