ClinVar Miner

List of variants in gene MAX reported as pathogenic for adrenal gland disease

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NC_000014.8:g.(?_65568254)_(65569067_?)del
NC_000014.8:g.(?_65568264)_(65569262_?)del
NM_002382.5(MAX):c.211_221del (p.Ile71fs) rs1060500101
NM_002382.5(MAX):c.219T>A (p.Tyr73Ter) rs1193255946
NM_002382.5(MAX):c.223C>T (p.Arg75Ter) rs387906650
NM_002382.5(MAX):c.228del (p.Asn78fs) rs1555340550

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