List of variants reported as likely pathogenic for Lethal Kniest-like syndrome

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_005529.7(HSPG2):c.11671+1G>T	rs1373848573	0.00001
NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg)	rs1294413650	0.00001
NM_005529.7(HSPG2):c.11562+1G>A	rs2550621846
NM_005529.7(HSPG2):c.6259C>T (p.Arg2087Ter)	rs1196835948
NM_005529.7(HSPG2):c.6437del (p.Pro2146fs)	rs1419062047
NM_005529.7(HSPG2):c.7294+1G>C
NM_005529.7(HSPG2):c.9514-1G>A	rs2152704005

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