ClinVar Miner

List of variants reported as pathogenic for lymphatic system disorder by Mendelics

Included ClinVar conditions (123):
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ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser) rs147462227 0.00007
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys) rs200430442 0.00002
NM_000271.5(NPC1):c.2292G>A (p.Ala764=) rs772565983 0.00001
NM_000271.5(NPC1):c.2972del (p.Gln991fs) rs1567948623 0.00001
NM_000271.5(NPC1):c.3394G>A (p.Ala1132Thr) rs1046046139 0.00001
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_199242.3(UNC13D):c.640C>T (p.Arg214Ter) rs769243366 0.00001
NM_199242.3(UNC13D):c.817C>T (p.Arg273Ter) rs201589664 0.00001
NM_000271.5(NPC1):c.2594C>T (p.Ser865Leu) rs1160114136
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu) rs1169032037
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn) rs1261939149
NM_000271.5(NPC1):c.3662del (p.Phe1221fs) rs786200878
NM_000271.5(NPC1):c.451_452del (p.Ser151fs) rs749012588
NM_001083116.3(PRF1):c.1016T>G (p.Val339Gly) rs2132475924
NM_003764.4(STX11):c.448G>T (p.Glu150Ter) rs2128757192
NM_003764.4(STX11):c.554dup (p.Trp186fs) rs1317576992
NM_003764.4(STX11):c.581_584del (p.Leu194fs) rs1584062332
NM_004523.4(KIF11):c.2782C>T (p.Gln928Ter) rs1589608594
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_032638.5(GATA2):c.831del (p.Phe278fs) rs1576748378
NM_199242.3(UNC13D):c.118-307G>A rs1019391145

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