ClinVar Miner

List of variants reported as likely pathogenic by Manipal Health Enterprises Pvt Ltd, Manipal Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000051.3(ATM):c.1192del (p.Asp398fs) rs1057519330
NM_000543.5(SMPD1):c.1341-10_1429dup rs1554935254
NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp) rs756789619

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