List of variants studied for Silver-Russell syndrome 1

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_003836.7(DLK1):c.194A>G (p.His65Arg)	rs147224004	0.00051
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3
NM_000218.3(KCNQ1):c.1514+37364_1514+38744del
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.803G>T (p.Arg268Leu)	rs318240750
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
NM_003836.7(DLK1):c.103G>C (p.Gly35Arg)	rs762558665

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