ClinVar Miner

List of variants reported as likely pathogenic by Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_018082.6(POLR3B):c.3008A>G (p.Tyr1003Cys) rs368953286 0.00004
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) rs794728291 0.00001
NM_000236.3(LIPC):c.193C>T (p.Arg65Ter) rs369262181 0.00001
NM_003742.4(ABCB11):c.251G>A (p.Gly84Asp) rs762571776 0.00001
NM_198253.3(TERT):c.2312C>T (p.Pro771Leu) rs1309399887 0.00001
NM_000038.6(APC):c.3036T>A (p.Asn1012Lys)
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000059.4(BRCA2):c.9730_9731del (p.Val3244fs)
NM_000138.5(FBN1):c.7699+5G>A rs1555394187
NM_000168.6(GLI3):c.2151del (p.Gln717fs)
NM_000179.3(MSH6):c.2906A>C (p.Tyr969Ser) rs63749919
NM_000249.4(MLH1):c.1040C>T (p.Thr347Ile)
NM_000313.4(PROS1):c.301C>T (p.Arg101Cys)
NM_000352.6(ABCC8):c.4383_4384dup (p.Val1462fs)
NM_000439.5(PCSK1):c.1024del (p.Trp342fs)
NM_000512.5(GALNS):c.648_649insTGTGGCTCTCTCCATAGGAAGCCCTGGACTCCT (p.Phe216_Ile217insCysGlySerLeuHisArgLysProTrpThrPro)
NM_000860.6(HPGD):c.38C>A (p.Ala13Glu)
NM_001042492.3(NF1):c.7248_7249del (p.Leu2417fs)
NM_001128425.2(MUTYH):c.196G>A (p.Ala66Thr) rs1064793421
NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys) rs180177452
NM_001690.4(ATP6V1A):c.299A>T (p.Asp100Val)
NM_002227.4(JAK1):c.2425C>T (p.Arg809Trp)
NM_004247.4(EFTUD2):c.446T>A (p.Leu149Ter)
NM_020975.6(RET):c.1664T>G (p.Phe555Cys)
NM_021871.4(FGA):c.541C>T (p.Arg181Ter)
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs) rs672601359
NM_024426.6(WT1):c.649A>G (p.Ile217Val) rs1384974578
NM_032485.6(MCM8):c.1404C>A (p.Cys468Ter)
NM_138393.4(REEP6):c.276C>A (p.Tyr92Ter)
NM_177559.3(CSNK2A1):c.479A>G (p.His160Arg) rs2018334830

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