ClinVar Miner

List of variants studied for primary lymphedema by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (85):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn) rs771588131 0.00001
NM_001291303.3(FAT4):c.14404C>T (p.Pro4802Ser) rs1727627190
NM_001291303.3(FAT4):c.5944A>G (p.Ser1982Gly) rs746510253
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_004523.4(KIF11):c.1217+14_1217+283del rs1844616530
NM_004523.4(KIF11):c.2312_2313del (p.Lys771fs) rs1844907904
NM_005199.5(CHRNG):c.1143G>A (p.Trp381Ter) rs1055176338
NM_005199.5(CHRNG):c.241C>T (p.Gln81Ter) rs1574643342
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_182925.5(FLT4):c.3247C>T (p.Pro1083Ser) rs1762428823
NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu) rs1762335528
NM_182925.5(FLT4):c.3610A>G (p.Thr1204Ala) rs1189576922

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