ClinVar Miner

List of variants reported as likely pathogenic for lymphatic system disorder by Revvity Omics, Revvity

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774 0.00003
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys) rs1053321823 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_000081.4(LYST):c.2437del (p.Arg813fs)
NM_000081.4(LYST):c.3202C>T (p.Gln1068Ter)
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr) rs201156397
NM_000271.5(NPC1):c.2531dup (p.Val845fs) rs2145378067
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.3470_3473delinsAA (p.Leu1157fs)
NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter)
NM_002435.3(MPI):c.1022del (p.Pro341fs)
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter) rs1661886822
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_003664.5(AP3B1):c.280-2A>G
NM_004523.4(KIF11):c.934C>T (p.Arg312Ter) rs2135905068
NM_005045.4(RELN):c.4864C>T (p.Arg1622Ter) rs1451240853
NM_006432.5(NPC2):c.363+1G>A
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_199242.3(UNC13D):c.3006del (p.Val1003fs) rs2143861305

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