List of variants reported as pathogenic for Silverman-Handmaker type dyssegmental dysplasia

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_005529.7(HSPG2):c.10894C>T (p.Arg3632Ter)	rs762281715	0.00002
HSPG2, 10328C-T
HSPG2, 89-BP DUP, EX34
NM_005529.7(HSPG2):c.12900-2A>C	rs111306515
NM_005529.7(HSPG2):c.3518del (p.Gly1173fs)	rs2152747090
NM_005529.7(HSPG2):c.6724+5G>A	rs2152721133
NM_005529.7(HSPG2):c.7006+1G>A	rs778653296

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