ClinVar Miner

List of variants in gene HSPG2 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498 0.00321
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) rs142736845 0.00133
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
NM_005529.7(HSPG2):c.8941G>A (p.Val2981Ile) rs2229490 0.00083
NM_005529.7(HSPG2):c.2725G>A (p.Gly909Ser) rs137904249 0.00079
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) rs140954748 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.7337C>T (p.Ser2446Leu) rs146950983 0.00050
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro) rs139838884 0.00046
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val) rs200225298 0.00043
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln) rs147286334 0.00039
NM_005529.7(HSPG2):c.9235G>A (p.Val3079Met) rs187525491 0.00039
NM_005529.7(HSPG2):c.6935G>A (p.Arg2312Gln) rs151178822 0.00029
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr) rs143274889 0.00029
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=) rs369899077 0.00028
NM_005529.7(HSPG2):c.9079G>A (p.Asp3027Asn) rs201759348 0.00026
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=) rs138459752 0.00023
NM_005529.7(HSPG2):c.5335C>T (p.Arg1779Trp) rs148803046 0.00022
NM_005529.7(HSPG2):c.11881G>A (p.Ala3961Thr) rs371079941 0.00021
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp) rs143437991 0.00016
NM_005529.7(HSPG2):c.4234G>A (p.Gly1412Ser) rs146184130 0.00013
NM_005529.7(HSPG2):c.6011G>A (p.Arg2004His) rs139926503 0.00013
NM_005529.7(HSPG2):c.2766C>G (p.Leu922=) rs375290305 0.00011
NM_005529.7(HSPG2):c.5628A>G (p.Thr1876=) rs368047383 0.00011
NM_005529.7(HSPG2):c.1086G>A (p.Lys362=) rs189837148 0.00009
NM_005529.7(HSPG2):c.2124C>T (p.Ser708=) rs139220302 0.00009
NM_005529.7(HSPG2):c.8076C>T (p.Gly2692=) rs372321167 0.00009
NM_005529.7(HSPG2):c.2411T>C (p.Met804Thr) rs761964111 0.00008
NM_005529.7(HSPG2):c.4413C>T (p.Pro1471=) rs376929779 0.00008
NM_005529.7(HSPG2):c.10144G>A (p.Val3382Ile) rs147177951 0.00006
NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=) rs573932867 0.00006
NM_005529.7(HSPG2):c.2558+10A>G rs756733330 0.00006
NM_005529.7(HSPG2):c.3894G>C (p.Gln1298His) rs147438001 0.00006
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His) rs775389963 0.00006
NM_005529.7(HSPG2):c.6058G>A (p.Ala2020Thr) rs554214201 0.00006
NM_005529.7(HSPG2):c.769C>T (p.Arg257Trp) rs535956121 0.00006
NM_005529.7(HSPG2):c.9291C>T (p.Tyr3097=) rs534949106 0.00006
NM_005529.7(HSPG2):c.11046C>T (p.Ala3682=) rs149466423 0.00004
NM_005529.7(HSPG2):c.2847G>A (p.Glu949=) rs773662857 0.00004
NM_005529.7(HSPG2):c.4924G>A (p.Glu1642Lys) rs528077703 0.00004
NM_005529.7(HSPG2):c.5934G>A (p.Arg1978=) rs557762861 0.00004
NM_005529.7(HSPG2):c.8288G>A (p.Arg2763His) rs188987688 0.00004
NM_005529.7(HSPG2):c.8608C>T (p.Arg2870Trp) rs764778166 0.00004
NM_005529.7(HSPG2):c.5115C>G (p.Pro1705=) rs370558075 0.00003
NM_005529.7(HSPG2):c.12559G>A (p.Asp4187Asn) rs780983936 0.00002
NM_005529.7(HSPG2):c.2645G>A (p.Arg882His) rs775214005 0.00002
NM_005529.7(HSPG2):c.5710G>A (p.Gly1904Ser) rs555463533 0.00002
NM_005529.7(HSPG2):c.8397T>G (p.Ser2799=) rs186657949 0.00002
NM_005529.7(HSPG2):c.2664C>T (p.Ser888=) rs560919408 0.00001
NM_005529.7(HSPG2):c.3747C>T (p.Cys1249=) rs886042933 0.00001
NM_005529.7(HSPG2):c.5146C>T (p.Arg1716Trp) rs769854672 0.00001
NM_005529.7(HSPG2):c.8199A>G (p.Ser2733=) rs886044168 0.00001
NM_005529.7(HSPG2):c.9274G>A (p.Val3092Met) rs369024085 0.00001
NM_005529.7(HSPG2):c.9695G>A (p.Arg3232His) rs758945882 0.00001
NM_005529.7(HSPG2):c.11208-7G>A rs1336552092
NM_005529.7(HSPG2):c.11760_11762del (p.Cys3921del) rs886043819
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu) rs145155624
NM_005529.7(HSPG2):c.12373T>C (p.Tyr4125His) rs886042959
NM_005529.7(HSPG2):c.1794G>A (p.Leu598=) rs1553170701
NM_005529.7(HSPG2):c.2585C>T (p.Pro862Leu) rs751963707
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.4324A>G (p.Ile1442Val) rs886043835
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_005529.7(HSPG2):c.8586G>C (p.Lys2862Asn) rs886044552
NM_005529.7(HSPG2):c.8910+7G>C rs766619826
NM_005529.7(HSPG2):c.9332C>A (p.Pro3111His) rs886043121
NM_005529.7(HSPG2):c.945T>A (p.Asp315Glu) rs886043696
NM_005529.7(HSPG2):c.9681C>T (p.His3227=) rs886043834
NM_005529.7(HSPG2):c.983A>G (p.Asn328Ser) rs751375092

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