ClinVar Miner

List of variants in gene HSPG2 reported as likely benign by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.1998+9C>T rs377228309 0.00461
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458 0.00326
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) rs112062179 0.00305
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=) rs139001173 0.00265
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=) rs138049720 0.00243
NM_005529.7(HSPG2):c.4627-3del rs368983547 0.00195
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959 0.00188
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp) rs142458572 0.00188
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00177
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780 0.00131
NM_005529.7(HSPG2):c.11169C>T (p.Phe3723=) rs139033413 0.00122
NM_005529.7(HSPG2):c.1525C>T (p.His509Tyr) rs142071466 0.00103
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_005529.7(HSPG2):c.7026C>T (p.Pro2342=) rs182418174 0.00014
NM_005529.7(HSPG2):c.5646G>A (p.Leu1882=) rs533624001 0.00004
NM_005529.7(HSPG2):c.8336G>A (p.Arg2779Gln) rs529205824
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700

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