List of variants in gene GPC3 reported as pathogenic for Simpson-Golabi-Behmel syndrome type 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 Xq26.2(chrX:132703748-132794615)
GRCh37/hg19 Xq26.2(chrX:132834006-132986815)
NC_000023.10:g.(133030929_133031380)_(133079087_133079463)delins(118528009_118528409)_(118674690_118675082)
NM_004484.3(GPC3):c.(1293_1293)-76_(1413_1413)del
NM_004484.3(GPC3):c.1414_1573del160 (p.Leu472Asnfs)
NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter)	rs122453121
NM_004484.4(GPC3):c.1292+1G>T	rs869025182
NM_004484.4(GPC3):c.1666G>A (p.Gly556Arg)	rs267606850
NM_004484.4(GPC3):c.175+1G>T	rs886039489
NM_004484.4(GPC3):c.194_206del (p.Cys65fs)	rs869025181
NM_004484.4(GPC3):c.280del (p.Gln94fs)
NM_004484.4(GPC3):c.337+1G>A	rs869025183
NM_004484.4(GPC3):c.595C>T (p.Arg199Ter)	rs104894855
NM_004484.4(GPC3):c.886T>A (p.Trp296Arg)	rs104894854

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