ClinVar Miner

List of variants in gene HSPG2 reported as benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.9790A>G (p.Ile3264Val) rs139500146 0.01121
NM_005529.7(HSPG2):c.831C>T (p.Pro277=) rs41310388 0.00944
NM_005529.7(HSPG2):c.1167C>T (p.Asp389=) rs145101074 0.00897
NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp) rs114851469 0.00786
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=) rs2229485 0.00669
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu) rs62642528 0.00626
NM_005529.7(HSPG2):c.789G>A (p.Met263Ile) rs142194150 0.00398
NM_005529.7(HSPG2):c.2596G>A (p.Gly866Ser) rs62642529 0.00397
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458 0.00326
NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=) rs202214491 0.00017

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