ClinVar Miner

List of variants studied for lymphoid system disorder by Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.3127A>G (p.Thr1043Ala) rs876661319
NM_000271.5(NPC1):c.506A>T (p.Asn169Ile) rs2059038310
NM_005045.4(RELN):c.5969+1G>A rs869320767

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