ClinVar Miner

List of variants reported for Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; Glioma susceptibility 2; Cowden syndrome 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_001126049.2(KLLN):c.-792C>T rs587779982 0.00044
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.6(PTEN):c.-859A>G rs876661029 0.00013
NM_000314.6(PTEN):c.-909T>C rs550385924 0.00013
NM_001126049.2(KLLN):c.-777C>T rs961642255 0.00013
NM_000314.8(PTEN):c.-835C>T rs587779994 0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000314.8(PTEN):c.-121A>G rs886047395 0.00004
NM_001126049.2(KLLN):c.-806A>C rs587782761 0.00004
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_001126049.2(KLLN):c.-845C>T rs587782068 0.00003
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000314.8(PTEN):c.-752G>A rs1256922808
NM_000314.8(PTEN):c.-752GGC[4] rs933847861
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1189C>T (p.His397Tyr) rs1589669413
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.209+1G>A rs1554897280
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.8(PTEN):c.488A>G (p.Lys163Arg) rs786202753
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) rs786204865
NM_000314.8(PTEN):c.593T>C (p.Met198Thr) rs1554900635
NM_000314.8(PTEN):c.634+5G>A rs138336847
NM_000314.8(PTEN):c.741dup (p.Pro248fs) rs587782341
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000314.8(PTEN):c.802-4_802-3dup rs34003473
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) rs1064794436

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