ClinVar Miner

List of variants reported as likely pathogenic for myeloproliferative neoplasm by Baylor Genetics

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728 0.00001
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1082del (p.Ser361fs)
NM_001042492.3(NF1):c.1156_1158delinsTT (p.Ile386fs)
NM_001042492.3(NF1):c.1356del (p.Gly453fs)
NM_001042492.3(NF1):c.146del (p.Tyr49fs)
NM_001042492.3(NF1):c.1564dup (p.Thr522fs) rs2066874810
NM_001042492.3(NF1):c.1595T>G (p.Leu532Arg) rs199474737
NM_001042492.3(NF1):c.1776del (p.Ser592fs)
NM_001042492.3(NF1):c.1876del (p.Leu626fs) rs1597710409
NM_001042492.3(NF1):c.1882_1884delinsAA (p.Tyr628fs)
NM_001042492.3(NF1):c.1997_1998del (p.Ser666fs)
NM_001042492.3(NF1):c.2100dup (p.Glu701Ter)
NM_001042492.3(NF1):c.2276_2291del (p.Val759fs)
NM_001042492.3(NF1):c.2293del (p.Arg765fs) rs1597713360
NM_001042492.3(NF1):c.2294del (p.Arg765fs) rs2151426934
NM_001042492.3(NF1):c.2325+1G>C
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.244_247del (p.Ser82_Gln83insTer) rs771115661
NM_001042492.3(NF1):c.2576del (p.Gly859fs)
NM_001042492.3(NF1):c.2682del (p.Phe894fs)
NM_001042492.3(NF1):c.2842del (p.Gln948fs) rs1555614354
NM_001042492.3(NF1):c.2850+1G>C
NM_001042492.3(NF1):c.2851-1G>C rs1597716274
NM_001042492.3(NF1):c.2952del (p.Gln985fs) rs1555614453
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys) rs1555614462
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_001042492.3(NF1):c.319dup (p.Thr107fs)
NM_001042492.3(NF1):c.3314+2T>G rs863224445
NM_001042492.3(NF1):c.3611G>T (p.Arg1204Leu) rs1057521848
NM_001042492.3(NF1):c.3682del (p.Ala1228fs)
NM_001042492.3(NF1):c.3686_3690del (p.Asn1229fs)
NM_001042492.3(NF1):c.3878del (p.Gly1293fs)
NM_001042492.3(NF1):c.4235G>T (p.Arg1412Ile)
NM_001042492.3(NF1):c.449del (p.Phe150fs) rs1567817974
NM_001042492.3(NF1):c.454_458del (p.Ala152fs)
NM_001042492.3(NF1):c.4903del (p.Tyr1635fs)
NM_001042492.3(NF1):c.5029del (p.Val1677fs)
NM_001042492.3(NF1):c.5223del (p.His1741fs)
NM_001042492.3(NF1):c.5269-19C>A rs755620051
NM_001042492.3(NF1):c.5269-38A>G rs2151540615
NM_001042492.3(NF1):c.5296del (p.Ser1766fs)
NM_001042492.3(NF1):c.5297del (p.Thr1765_Ser1766insTer)
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro) rs2151541565
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu) rs1567613616
NM_001042492.3(NF1):c.5813-1G>A rs1057518974
NM_001042492.3(NF1):c.5861C>A (p.Ser1954Ter)
NM_001042492.3(NF1):c.6179_6183del (p.Lys2060fs)
NM_001042492.3(NF1):c.6252C>A (p.Tyr2084Ter) rs2069684411
NM_001042492.3(NF1):c.6275del (p.Asn2092fs) rs1555534697
NM_001042492.3(NF1):c.6355dup (p.Arg2119fs)
NM_001042492.3(NF1):c.6512dup (p.Ser2172fs)
NM_001042492.3(NF1):c.6862C>T (p.Gln2288Ter)
NM_001042492.3(NF1):c.702_708del (p.Tyr235fs) rs2066139158
NM_001042492.3(NF1):c.7386_7387insA (p.Leu2463fs)
NM_001042492.3(NF1):c.7387_7388dup (p.Thr2464fs)
NM_001042492.3(NF1):c.7387del (p.Thr2464fs)
NM_001042492.3(NF1):c.7458-2A>G
NM_001042492.3(NF1):c.7646C>G (p.Ser2549Ter)
NM_001042492.3(NF1):c.7777_7778del (p.Leu2593fs)
NM_001042492.3(NF1):c.7894_7895del (p.Thr2631_Asp2632insTer)
NM_001042492.3(NF1):c.7926C>A (p.Tyr2642Ter)
NM_001042492.3(NF1):c.8136G>A (p.Trp2712Ter)
NM_001042492.3(NF1):c.8194del (p.Val2732fs)
NM_001042492.3(NF1):c.862_868dup (p.Asp290delinsGlyGlyTer)
NM_001042492.3(NF1):c.966dup (p.Ala323fs)
NM_001754.5(RUNX1):c.422C>A (p.Ser141Ter)
NM_001754.5(RUNX1):c.777_778dup (p.Asn260fs)
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser) rs387906666
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471

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