ClinVar Miner

List of variants reported as uncertain significance for Seckel syndrome by Mendelics

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001184.4(ATR):c.2305C>A (p.Leu769Ile) rs1489808838
NM_001184.4(ATR):c.6259A>G (p.Met2087Val) rs757353909
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met) rs144938364

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