ClinVar Miner

List of variants reported as uncertain significance for PTEN hamartoma tumor syndrome by Mendelics

Included ClinVar conditions (20):
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ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_000314.4(PTEN):c.-920G>A rs786204937
NM_000314.7(PTEN):c.-481_-473del rs1226857287
NM_000314.7(PTEN):c.-700G>A rs1554890059
NM_000314.7(PTEN):c.1016C>A (p.Pro339Gln) rs1564568679
NM_000314.7(PTEN):c.1078A>G (p.Ser360Gly) rs587781273
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.7(PTEN):c.256G>A (p.Ala86Thr) rs1564829780
NM_000314.7(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.7(PTEN):c.592_594ATG[1] (p.Met199del) rs1064793244
NM_000314.7(PTEN):c.613A>G (p.Met205Val) rs776763121
NM_000314.7(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.7(PTEN):c.810G>T (p.Met270Ile) rs1195369834
NM_000314.7(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.7(PTEN):c.901G>A (p.Asp301Asn) rs758644748
NM_003000.2(SDHB):c.112C>T (p.Arg38Cys) rs202119350
NM_003000.2(SDHB):c.200+7A>G rs371329778
NM_003000.2(SDHB):c.307A>G (p.Met103Val) rs140178341
NM_003000.2(SDHB):c.32G>A (p.Arg11His) rs111430410
NM_003000.2(SDHB):c.440A>G (p.Tyr147Cys) rs774568101
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.2(SDHB):c.540+11C>T rs1160578491
NM_003000.2(SDHB):c.559A>G (p.Ile187Val) rs1557739989
NM_003000.2(SDHB):c.638T>C (p.Met213Thr) rs202014362
NM_003000.2(SDHB):c.721T>G (p.Tyr241Asp) rs1060503758
NM_003000.2(SDHB):c.769C>G (p.Leu257Val)
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) rs11203289
NM_005163.2(AKT1):c.1361A>G (p.Gln454Arg) rs759702315
NM_005163.2(AKT1):c.138C>A (p.Asp46Glu) rs146875699
NM_005163.2(AKT1):c.1390G>A (p.Glu464Lys)
NM_005163.2(AKT1):c.176-5C>A
NM_005163.2(AKT1):c.288-3C>T rs61761189
NM_005163.2(AKT1):c.356A>G (p.Asp119Gly) rs1566818099
NM_005163.2(AKT1):c.406G>A (p.Val136Met) rs778376616
NM_005163.2(AKT1):c.570C>T (p.Asp190=) rs780207480

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