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

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)	rs143335584	0.00029
NM_000314.8(PTEN):c.-701G>A	rs1554890059	0.00019
NM_000314.4(PTEN):c.-1242G>A	rs587779985	0.00018
NM_000314.6(PTEN):c.-920G>A	rs786204937	0.00009
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly)	rs587781273	0.00002
NM_000314.8(PTEN):c.613A>G (p.Met205Val)	rs776763121	0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=)	rs786201280	0.00001
NM_000314.8(PTEN):c.901G>A (p.Asp301Asn)	rs758644748	0.00001
NM_001126049.2(KLLN):c.316C>A (p.Pro106Thr)	rs1244675683	0.00001
NM_000314.6(PTEN):c.-845A>C	rs786204861
NM_000314.6(PTEN):c.-868G>C	rs587782133
NM_000314.8(PTEN):c.-482_-474del	rs1226857287
NM_000314.8(PTEN):c.1016C>A (p.Pro339Gln)	rs1564568679
NM_000314.8(PTEN):c.256G>A (p.Ala86Thr)	rs1564829780
NM_000314.8(PTEN):c.592ATG[1] (p.Met199del)	rs1064793244
NM_000314.8(PTEN):c.810G>T (p.Met270Ile)	rs1195369834

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