ClinVar Miner

List of variants reported as uncertain significance for Lethal Kniest-like syndrome by Baylor Genetics

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr) rs149094407 0.00088
NM_005529.7(HSPG2):c.7423G>C (p.Gly2475Arg) rs142601663 0.00029
NM_005529.7(HSPG2):c.8025+20C>T rs146363738 0.00024
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln) rs537908254 0.00013
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His) rs775389963 0.00006
NM_005529.7(HSPG2):c.5350C>T (p.Arg1784Cys) rs150937055 0.00004
NM_005529.7(HSPG2):c.7775C>T (p.Pro2592Leu) rs140341550 0.00004
NM_005529.7(HSPG2):c.12949G>A (p.Gly4317Ser) rs567999404 0.00003
NM_005529.7(HSPG2):c.1834G>A (p.Gly612Ser) rs768946900 0.00003
NM_005529.7(HSPG2):c.3875A>G (p.Gln1292Arg) rs764233594 0.00003
NM_005529.7(HSPG2):c.1666A>T (p.Thr556Ser) rs769587805 0.00001
NM_005529.7(HSPG2):c.4040A>C (p.His1347Pro) rs1234473043 0.00001

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