ClinVar Miner

List of variants in gene PTEN reported as benign by Sema4, Sema4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.1026+32T>G rs555895 0.40232
NM_000314.8(PTEN):c.-165C>G rs575260016 0.00267
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_000314.8(PTEN):c.79+35C>T rs190707033 0.00130
NM_000314.8(PTEN):c.-461G>A rs1209261790 0.00114
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_000314.8(PTEN):c.802-12T>C rs587781129 0.00015
NM_000314.8(PTEN):c.321T>C (p.Asp107=) rs372876243 0.00001
NM_000314.8(PTEN):c.80-11A>G rs776590293 0.00001
NM_000314.8(PTEN):c.-500GGC[6] rs1237307954
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000314.8(PTEN):c.802-4_802-3del rs34003473
NM_000314.8(PTEN):c.802-4_802-3dup rs34003473
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_000314.8(PTEN):c.802-5_802-3dup rs34003473

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