List of variants studied for multiple congenital anomalies/dysmorphic syndrome by Dobyns Lab, Seattle Children's Research Institute

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_031307.4(PUS3):c.578G>A (p.Arg193Gln)	rs576405108	0.00002
NM_031307.4(PUS3):c.497G>A (p.Arg166Gln)	rs200876642	0.00001
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)	rs180177041
NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro)	rs1563183469
NM_020134.4(DPYSL5):c.139G>A (p.Gly47Arg)	rs1558337060
NM_023110.3(FGFR1):c.1881G>C (p.Arg627Ser)	rs1563436265

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