ClinVar Miner

List of variants reported as pathogenic for Simpson-Golabi-Behmel syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)
GRCh37/hg19 Xq26.2(chrX:132834006-132986815)
NM_003611.3(OFD1):c.2126_2129dup (p.Asn711fs) rs312262890
NM_004484.3(GPC3):c.(1293_1293)-76_(1413_1413)del
NM_004484.3(GPC3):c.1159C>T (p.Arg387Ter) rs122453121
NM_004484.3(GPC3):c.1292+1G>T rs869025182
NM_004484.3(GPC3):c.1414_1573del160 (p.Leu472Asnfs)
NM_004484.3(GPC3):c.1666G>A (p.Gly556Arg) rs267606850
NM_004484.3(GPC3):c.194_206del (p.Cys65fs) rs869025181
NM_004484.3(GPC3):c.337+1G>A rs869025183
NM_004484.3(GPC3):c.595C>T (p.Arg199Ter) rs104894855
NM_004484.3(GPC3):c.886T>A (p.Trp296Arg) rs104894854

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