List of variants reported as uncertain significance for Simpson-Golabi-Behmel syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)	rs797045846	0.00008
NM_003611.3(OFD1):c.1490A>C (p.His497Pro)	rs772474080	0.00004
NM_003611.3(OFD1):c.324G>A (p.Met108Ile)	rs763219658	0.00003
NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys)	rs758712291	0.00002
NM_003611.3(OFD1):c.2022C>A (p.His674Gln)	rs759693810	0.00002
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp)	rs776834508	0.00002
NM_003611.3(OFD1):c.730A>G (p.Met244Val)	rs770614769	0.00002
NM_004484.4(GPC3):c.115C>T (p.Arg39Cys)	rs757475450	0.00002
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys)	rs1454731121	0.00001
NM_003611.3(OFD1):c.2297G>T (p.Cys766Phe)	rs774888576	0.00001
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp)	rs1235702491	0.00001
NM_003611.3(OFD1):c.74A>G (p.Gln25Arg)	rs1158126675	0.00001
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg)	rs778349684	0.00001
NM_003611.3(OFD1):c.935+4A>G	rs1243725011	0.00001
NM_003611.3(OFD1):c.967A>G (p.Ser323Gly)	rs764424025	0.00001
NM_004484.4(GPC3):c.1070A>G (p.Tyr357Cys)	rs757269723	0.00001
NM_004484.4(GPC3):c.118T>C (p.Ser40Pro)	rs1238291553	0.00001
NM_004484.4(GPC3):c.1277A>G (p.Gln426Arg)	rs749874149	0.00001
NM_004484.4(GPC3):c.1292+6C>T	rs1207247416	0.00001
NM_004484.4(GPC3):c.1568T>C (p.Leu523Pro)	rs1015207544	0.00001
NM_004484.4(GPC3):c.865G>A (p.Val289Met)	rs1456458902	0.00001
NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr)	rs2147032761
NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly)	rs2047794483
NM_004484.4(GPC3):c.1051C>T (p.His351Tyr)	rs2071153064
NM_004484.4(GPC3):c.140C>T (p.Pro47Leu)	rs2076562505
NM_004484.4(GPC3):c.1562G>A (p.Arg521His)	rs2069915768
NM_004484.4(GPC3):c.913G>A (p.Glu305Lys)	rs903266102

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