ClinVar Miner

List of variants in gene PTEN reported by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP
NM_000314.4(PTEN):c.1104T>C (p.Asp368=) rs35979531
NM_000314.4(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.4(PTEN):c.402G>T (p.Met134Ile) rs1114167676
NM_000314.4(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.4(PTEN):c.538T>C (p.Tyr180His) rs746280047
NM_000314.4(PTEN):c.685T>A (p.Ser229Thr) rs587781998
NM_000314.4(PTEN):c.822G>A (p.Trp274Ter) rs587782607
NM_000314.4(PTEN):c.887G>A (p.Cys296Tyr) rs1060500121
NM_000314.6(PTEN):c.-1009C>G rs1554889883
NM_000314.6(PTEN):c.-728C>T rs1554890049
NM_000314.6(PTEN):c.-734G>C rs886047384
NM_000314.6(PTEN):c.-856C>G rs587779996
NM_000314.6(PTEN):c.-903G>A rs1044322
NM_000314.6(PTEN):c.-987C>T rs786202097
NM_000314.6(PTEN):c.1197A>G (p.Gln399=) rs374684043
NM_000314.6(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.6(PTEN):c.210-1G>A rs1114167621
NM_000314.6(PTEN):c.210-39A>G rs370918174
NM_000314.6(PTEN):c.210-47C>T rs1444454603
NM_000314.6(PTEN):c.210-7_210-3del5 rs587780544
NM_000314.6(PTEN):c.210-8delT rs1554897849
NM_000314.6(PTEN):c.309delC (p.Cys105Valfs) rs1554898088
NM_000314.6(PTEN):c.386_387delGAinsTT (p.Gly129Val) rs1554898141
NM_000314.6(PTEN):c.478A>C (p.Thr160Pro) rs1060500128
NM_000314.6(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.6(PTEN):c.548dup (p.Asn184Glufs) rs1554900593
NM_000314.6(PTEN):c.720C>T (p.Tyr240=) rs190070312
NM_000314.6(PTEN):c.783G>A (p.Gln261=) rs760146269
NM_000314.6(PTEN):c.870A>G (p.Val290=) rs529155918
NM_000314.6(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.7(PTEN):c.-899_-878dup
NM_000314.7(PTEN):c.-909T>C rs550385924
NM_000314.7(PTEN):c.-973T>G
NM_000314.7(PTEN):c.1061C>A (p.Pro354Gln) rs375709098
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.7(PTEN):c.402G>C (p.Met134Ile)
NM_000314.7(PTEN):c.914G>T (p.Ser305Ile)

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