ClinVar Miner

List of variants studied for PTEN hamartoma tumor syndrome by Herman Laboratory,Nationwide Children's Hospital

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NC_000010.10:g.89589557_89642550dup
NM_000314.7(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.7(PTEN):c.1004G>A (p.Arg335Gln) rs1085308040
NM_000314.7(PTEN):c.1027-2A>G rs1085308041
NM_000314.7(PTEN):c.131G>A (p.Gly44Asp) rs1085308042
NM_000314.7(PTEN):c.164+1G>C rs1554893835
NM_000314.7(PTEN):c.165-2A>G rs1085308043
NM_000314.7(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.7(PTEN):c.253+1G>C rs587776667
NM_000314.7(PTEN):c.284C>T (p.Pro95Leu) rs786204856
NM_000314.7(PTEN):c.316G>T (p.Glu106Ter) rs1085308039
NM_000314.7(PTEN):c.320A>T (p.Asp107Val) rs786204858
NM_000314.7(PTEN):c.35A>C (p.Asn12Thr) rs1085308044
NM_000314.7(PTEN):c.369C>G (p.His123Gln) rs1085308045
NM_000314.7(PTEN):c.386G>A (p.Gly129Glu) rs121909218
NM_000314.7(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.7(PTEN):c.401T>C (p.Met134Thr) rs1085308046
NM_000314.7(PTEN):c.40A>G (p.Arg14Gly) rs1085308047
NM_000314.7(PTEN):c.416T>G (p.Leu139Ter) rs1085308048
NM_000314.7(PTEN):c.420dup (p.His141fs) rs1085308050
NM_000314.7(PTEN):c.470A>G (p.Glu157Gly) rs1085308051
NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.7(PTEN):c.518G>A (p.Arg173His) rs121913294
NM_000314.7(PTEN):c.520dup (p.Tyr174fs) rs1085308052
NM_000314.7(PTEN):c.605C>T (p.Thr202Ile) rs1085308053
NM_000314.7(PTEN):c.607_608del (p.Ile203fs) rs1085308054
NM_000314.7(PTEN):c.617_621del (p.Phe206fs) rs1085308055
NM_000314.7(PTEN):c.635-1G>A rs876661024
NM_000314.7(PTEN):c.635-3C>G rs1085308056
NM_000314.7(PTEN):c.667A>T (p.Lys223Ter) rs1085308049
NM_000314.7(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.7(PTEN):c.733C>T (p.Gln245Ter) rs786202918
NM_000314.7(PTEN):c.821G>T (p.Trp274Leu) rs786204875

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