ClinVar Miner

List of variants studied for lymphatic system disorder by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084 0.10225
NM_000271.5(NPC1):c.1947+14G>T rs3745024 0.01574
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591 0.00373
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744 0.00363
NM_000271.5(NPC1):c.540C>T (p.Asp180=) rs143656971 0.00300
NM_018344.6(SLC29A3):c.1001A>G (p.Asn334Ser) rs144665176 0.00255
NM_000081.4(LYST):c.8487C>T (p.Ile2829=) rs144597913 0.00126
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_004523.4(KIF11):c.2153A>T (p.His718Leu) rs116942055 0.00082
NM_000081.4(LYST):c.2363+10dup rs760632806 0.00058
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val) rs199855658 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_012388.4(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116 0.00009
NM_000081.4(LYST):c.8607A>G (p.Gln2869=) rs369484787 0.00004
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000081.4(LYST):c.8980G>A (p.Glu2994Lys)
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504

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