ClinVar Miner

List of variants reported as likely pathogenic by St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital

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Total variants: 23
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HGVS dbSNP
NM_000051.3(ATM):c.8535G>A (p.Trp2845Ter) rs1555138291
NM_000059.3(BRCA2):c.5201_5205delinsGAAAAG (p.Glu1734fs) rs483353082
NM_000267.3(NF1):c.6858+3A>G rs1085307885
NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del) rs750123656
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000546.5(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577
NM_001128849.2(SMARCA4):c.535C>T (p.Gln179Ter) rs1469271544
NM_001211.6(BUB1B):c.667C>T (p.Gln223Ter)
NM_002485.4(NBN):c.2184+1G>T rs756363734
NM_002878.3(RAD51D):c.898C>T (p.Arg300Ter) rs750621215
NM_004260.3(RECQL4):c.1717C>T (p.Gln573Ter) rs1483085748
NM_004656.4(BAP1):c.256-3C>A rs752536342
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_016734.3(PAX5):c.253G>A (p.Gly85Arg)
NM_020937.4(FANCM):c.4826_4827del (p.Asp1609fs) rs1375421660
NM_024426.6(WT1):c.151del (p.Ala51fs) rs776155094
NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097
NM_032444.4(SLX4):c.859_860del (p.Ser287fs) rs1567176006
NM_144997.7(FLCN):c.872-1G>T rs1567813248
NM_206937.2(LIG4):c.1673A>C (p.Gln558Pro) rs751409106

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