ClinVar Miner

List of variants in gene combination HSPG2, LDLRAD2 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.13050A>G (p.Ser4350=) rs897467 0.78919
NM_005529.7(HSPG2):c.12994G>A (p.Val4332Ile) rs1138469 0.04935
NM_005529.7(HSPG2):c.13119C>T (p.Pro4373=) rs2229477 0.00898
NM_005529.7(HSPG2):c.12801G>T (p.Gly4267=) rs79386413 0.00828
NM_001013693.3(LDLRAD2):c.*2087C>T rs117182812 0.00420
NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu) rs62642502 0.00312
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr) rs114015043 0.00254
NM_001013693.3(LDLRAD2):c.*2629C>T rs181154087 0.00165
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082 0.00106
NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp) rs116316900 0.00079
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln) rs537908254 0.00012
NM_005529.7(HSPG2):c.13096C>T (p.Pro4366Ser) rs771945509 0.00004
NM_005529.7(HSPG2):c.13159C>T (p.Arg4387Cys) rs767431377 0.00001
NM_005529.7(HSPG2):c.12952C>A (p.Arg4318=) rs3736358
NM_005529.7(HSPG2):c.12994G>T (p.Val4332Phe) rs1138469
NM_005529.7(HSPG2):c.13094G>A (p.Arg4365Gln) rs373773624

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