ClinVar Miner

List of variants studied for lymphatic system disorder by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000081.4(LYST):c.6782G>A (p.Arg2261His) rs147791378 0.00031
NM_003664.5(AP3B1):c.1022G>A (p.Arg341His) rs141832130 0.00023
NM_001261826.3(AP3D1):c.2936C>T (p.Pro979Leu) rs776432599 0.00004
NM_000081.4(LYST):c.10870G>A (p.Val3624Ile) rs776033238 0.00003
NM_000081.4(LYST):c.10095G>C (p.Lys3365Asn)
NM_000081.4(LYST):c.10100del (p.Lys3367fs)
NM_000081.4(LYST):c.10507G>A (p.Ala3503Thr)
NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg)
NM_000081.4(LYST):c.1184G>A (p.Arg395His)
NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)
NM_000081.4(LYST):c.7136T>C (p.Leu2379Pro)
NM_000081.4(LYST):c.7688C>T (p.Thr2563Ile)
NM_000081.4(LYST):c.772T>C (p.Cys258Arg)
NM_000081.4(LYST):c.8827T>C (p.Tyr2943His)
NM_001261826.3(AP3D1):c.1523G>C (p.Arg508Pro) rs768071199
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter) rs1746480237

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