ClinVar Miner

List of variants studied for lymphatic system disorder by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys) rs374526072
NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter) rs1034395178
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767

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