List of variants reported as pathogenic by Centre de Recherche Saint Antoine, Université Pierre et Marie Curie

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000612.6(IGF2):c.157+1_157+2insGC	rs1114167321
NM_000612.6(IGF2):c.78C>G (p.Tyr26Ter)	rs1064794050
NM_001122630.2(CDKN1C):c.*5+2T>C	rs587777866
NM_001122630.2(CDKN1C):c.300dup (p.Ala101fs)	rs786205235
NM_001122630.2(CDKN1C):c.367dup (p.Glu123fs)	rs786205236
NM_001122630.2(CDKN1C):c.416del (p.Pro139fs)	rs786205234
NM_001122630.2(CDKN1C):c.578_602dup (p.Ala202fs)	rs1554937847
NM_001122630.2(CDKN1C):c.596_597insGCTCCGGCCCC (p.Ala200fs)	rs786205241
NM_001122630.2(CDKN1C):c.598delinsAA (p.Ala200fs)	rs786205239
NM_001122630.2(CDKN1C):c.599CCCCGG[4] (p.186AP[11])	rs772704243
NM_001122630.2(CDKN1C):c.602del (p.Pro201fs)	rs786205237
NM_001122630.2(CDKN1C):c.608_611delinsGGG (p.Pro203fs)	rs786205240
NM_002655.3(PLAG1):c.1363del (p.Gln455fs)	rs1114167318
NM_002655.3(PLAG1):c.439del (p.Ser147fs)	rs1114167317
NM_003483.6(HMGA2):c.189del (p.Ala64fs)	rs1114167320
NM_003483.6(HMGA2):c.193C>T (p.Gln65Ter)	rs1114167319

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