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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)	rs1554935669	0.00001
NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp)	rs202217604	0.00001
NM_000271.5(NPC1):c.114_122del (p.Lys38_Tyr40del)	rs1599011473
NM_000271.5(NPC1):c.57+4A>G	rs1057519229
NM_000543.5(SMPD1):c.1264-1G>C	rs1057516454
NM_001083116.3(PRF1):c.148G>A (p.Val50Met)	rs776299562
NM_005633.4(SOS1):c.1653_1655del (p.Arg552del)	rs1572830219
NM_006767.4(LZTR1):c.1682G>A (p.Arg561His)	rs970027059
NM_006767.4(LZTR1):c.685T>C (p.Cys229Arg)	rs886041925
NM_006949.4(STXBP2):c.1115C>A (p.Ala372Asp)	rs1434458616
NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg)	rs1576745260
NM_032638.5(GATA2):c.1046G>A (p.Cys349Tyr)	rs1576745256
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter)	rs1553770510

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