ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974 0.00628
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) rs78889849 0.00373
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn) rs75467696 0.00357
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498 0.00321
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) rs112062179 0.00305
NM_005529.7(HSPG2):c.3336C>T (p.Pro1112=) rs2228348 0.00304
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His) rs41311989 0.00293
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.3945T>C (p.Ser1315=) rs72866991 0.00243
NM_005529.7(HSPG2):c.10110G>A (p.Lys3370=) rs141963344 0.00237
NM_005529.7(HSPG2):c.11937C>T (p.Phe3979=) rs143431746 0.00217
NM_005529.7(HSPG2):c.2024G>A (p.Arg675Gln) rs143119915 0.00207
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.2326G>A (p.Val776Met) rs145476116 0.00185
NM_005529.7(HSPG2):c.5160C>T (p.Ser1720=) rs138980184 0.00118
NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=) rs372318754 0.00101
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=) rs146167897 0.00096
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr) rs116630187 0.00078
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00066
NM_005529.7(HSPG2):c.732A>G (p.Thr244=) rs139842104 0.00062
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_005529.7(HSPG2):c.12354G>A (p.Thr4118=) rs371885206 0.00048
NM_005529.7(HSPG2):c.10365C>T (p.Asn3455=) rs189103460 0.00037
NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met) rs139855779 0.00027
NM_005529.7(HSPG2):c.2919C>T (p.Pro973=) rs150055353 0.00020
NM_005529.7(HSPG2):c.4755C>T (p.Asn1585=) rs142756395 0.00018
NM_005529.7(HSPG2):c.11001G>A (p.Thr3667=) rs147966644 0.00017
NM_005529.7(HSPG2):c.1549G>A (p.Ala517Thr) rs139719757 0.00016
NM_005529.7(HSPG2):c.6057C>T (p.Asp2019=) rs201990135 0.00013
NM_005529.7(HSPG2):c.4758C>T (p.Ala1586=) rs374708543 0.00010
NM_005529.7(HSPG2):c.7059G>A (p.Ala2353=) rs374337096 0.00010
NM_005529.7(HSPG2):c.7011C>T (p.Ala2337=) rs150649767 0.00008
NM_005529.7(HSPG2):c.10464G>A (p.Ser3488=) rs139359384 0.00006
NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=) rs573932867 0.00006
NM_005529.7(HSPG2):c.3600G>A (p.Arg1200=) rs367782811 0.00004
NM_005529.7(HSPG2):c.7407G>A (p.Thr2469=) rs200462415 0.00004
NM_005529.7(HSPG2):c.2034G>T (p.Gln678His) rs375600124 0.00003
NM_005529.7(HSPG2):c.228C>T (p.Ser76=) rs748426323 0.00001
NM_005529.7(HSPG2):c.4503G>A (p.Pro1501=) rs781260091 0.00001
NM_005529.7(HSPG2):c.5001G>A (p.Gln1667=) rs1399395553 0.00001
NM_005529.7(HSPG2):c.7119G>A (p.Thr2373=) rs764531754 0.00001
NM_005529.7(HSPG2):c.873A>G (p.Ala291=) rs1350233072 0.00001
NM_005529.7(HSPG2):c.9924T>C (p.Ala3308=) rs1480039869 0.00001
NM_005529.7(HSPG2):c.11983T>C (p.Leu3995=)
NM_005529.7(HSPG2):c.12021G>A (p.Pro4007=) rs531754046
NM_005529.7(HSPG2):c.1920C>T (p.Ala640=)
NM_005529.7(HSPG2):c.2610G>A (p.Arg870=)
NM_005529.7(HSPG2):c.2898G>A (p.Glu966=)
NM_005529.7(HSPG2):c.2910C>T (p.Ser970=)
NM_005529.7(HSPG2):c.2922G>A (p.Gly974=) rs1445527817
NM_005529.7(HSPG2):c.3207G>A (p.Gly1069=) rs886046038
NM_005529.7(HSPG2):c.3504C>T (p.Cys1168=)
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.3843C>T (p.Gly1281=)
NM_005529.7(HSPG2):c.4033T>G (p.Ser1345Ala)
NM_005529.7(HSPG2):c.575-634C>T
NM_005529.7(HSPG2):c.575-640C>G
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_005529.7(HSPG2):c.6939C>A (p.Ala2313=)
NM_005529.7(HSPG2):c.7797G>A (p.Val2599=)
NM_005529.7(HSPG2):c.8265T>C (p.His2755=)
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005529.7(HSPG2):c.8565C>T (p.His2855=)
NM_005529.7(HSPG2):c.8618T>G (p.Val2873Gly)
NM_005529.7(HSPG2):c.8871G>A (p.Thr2957=) rs768354388
NM_005529.7(HSPG2):c.9551T>A (p.Val3184Glu)

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