ClinVar Miner

List of variants in gene MARS1 studied for ectodermal dysplasia syndrome

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004990.4(MARS1):c.2569C>T (p.Arg857Ter) rs768234938 0.00004
NM_004990.4(MARS1):c.1201G>A (p.Val401Met) rs774447812 0.00002
NM_004990.4(MARS1):c.1102G>T (p.Asp368Tyr)
NM_004990.4(MARS1):c.1316_1327dup (p.Pro442_Val443insGlySerCysPro)
NM_004990.4(MARS1):c.1450T>C (p.Ser484Pro)

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