ClinVar Miner

List of variants reported as benign for qualitative or quantitative defects of perlecan by Genome-Nilou Lab

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.4029+32T>A rs2501266 0.98165
NM_005529.7(HSPG2):c.1912A>G (p.Met638Val) rs1874792 0.97869
NM_005529.7(HSPG2):c.324C>T (p.Phe108=) rs2501260 0.95305
NM_005529.7(HSPG2):c.3302+13G>A rs2501265 0.94485
NM_005529.7(HSPG2):c.2109C>T (p.Ala703=) rs1874793 0.93527
NM_005529.7(HSPG2):c.2294A>G (p.Asn765Ser) rs989994 0.93519
NM_005529.7(HSPG2):c.1655-35G>A rs921847 0.92710
NM_005529.7(HSPG2):c.1507+38A>G rs4654994 0.90430
NM_005529.7(HSPG2):c.13050A>G (p.Ser4350=) rs897467 0.78919
NM_005529.7(HSPG2):c.7738-14T>C rs3767138 0.77496
NM_005529.7(HSPG2):c.11562+19C>T rs3736355 0.76763
NM_005529.7(HSPG2):c.4508C>T (p.Ala1503Val) rs897471 0.70428
NM_005529.7(HSPG2):c.474G>T (p.Gly158=) rs2254358 0.52823
NM_005529.7(HSPG2):c.3897G>A (p.Val1299=) rs2229482 0.50526
NM_001127671.2(LIFR):c.397+29A>C rs2289779 0.37791
NM_005529.7(HSPG2):c.7873+25A>C rs2290501 0.37177
NM_005529.7(HSPG2):c.9852T>C (p.Ala3284=) rs2291826 0.33918
NM_001127671.2(LIFR):c.561+216A>G rs1822815 0.30148
NM_001127671.2(LIFR):c.1292-80T>A rs16903989 0.29875
NM_005529.7(HSPG2):c.12312T>C (p.Asp4104=) rs2228347 0.24480
NM_005529.7(HSPG2):c.11352+25C>A rs2270701 0.18117
NM_001127671.2(LIFR):c.2353G>A (p.Val785Ile) rs3110234 0.17829
NM_001127671.2(LIFR):c.2167+21T>C rs3110971 0.17819
NM_005529.7(HSPG2):c.7294+25G>A rs2290500 0.16981
NM_005529.7(HSPG2):c.11992+23G>A rs12023794 0.14776
NM_005529.7(HSPG2):c.12992G>A (p.Ser4331Asn) rs3736360 0.14722
NM_005529.7(HSPG2):c.10831-4G>A rs17459139 0.13467
NM_005529.7(HSPG2):c.10617C>T (p.Val3539=) rs2229492 0.13438
NM_005529.7(HSPG2):c.11992+35A>G rs12042189 0.13391
NM_005529.7(HSPG2):c.9766C>T (p.His3256Tyr) rs2291827 0.12760
NM_005529.7(HSPG2):c.8983A>G (p.Ser2995Gly) rs2229491 0.10503
NM_005529.7(HSPG2):c.10895G>A (p.Arg3632Gln) rs2229493 0.10303
NM_005529.7(HSPG2):c.11082C>T (p.Pro3694=) rs2229486 0.10296
NM_005529.7(HSPG2):c.10260C>T (p.His3420=) rs35444472 0.10248
NM_005529.7(HSPG2):c.9502G>A (p.Ala3168Thr) rs2228349 0.10008
NM_005529.7(HSPG2):c.3688G>A (p.Gly1230Ser) rs28546127 0.07520
NM_005529.7(HSPG2):c.3360G>A (p.Ala1120=) rs41307806 0.05882
NM_005529.7(HSPG2):c.825G>A (p.Leu275=) rs41307868 0.05694
NM_005529.7(HSPG2):c.5575+32T>C rs200354565 0.05248
NM_005529.7(HSPG2):c.5575+31C>A rs12757277 0.04871
NM_005529.7(HSPG2):c.10918G>A (p.Val3640Ile) rs17459097 0.04258
NM_001127671.2(LIFR):c.143-60A>G rs62355821 0.04013
NM_001127671.2(LIFR):c.346C>T (p.His116Tyr) rs3729734 0.03927
NM_005529.7(HSPG2):c.6133+19T>C rs36080251 0.03837
NM_005529.7(HSPG2):c.8939T>A (p.Leu2980His) rs2229489 0.03837
NM_005529.7(HSPG2):c.6552G>A (p.Thr2184=) rs34443576 0.03836
NM_005529.7(HSPG2):c.8026-5T>C rs35917892 0.03832
NM_005529.7(HSPG2):c.6673G>A (p.Gly2225Ser) rs35669711 0.03830
NM_005529.7(HSPG2):c.7806C>A (p.Val2602=) rs12737091 0.03827
NM_005529.7(HSPG2):c.5899G>A (p.Val1967Ile) rs2229475 0.03821
NM_005529.7(HSPG2):c.6402G>A (p.Val2134=) rs12742444 0.03814
NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly) rs74856317 0.00245
NM_001127671.2(LIFR):c.143-39C>G rs62355820 0.00015
NM_005529.7(HSPG2):c.11187G>T (p.Val3729=) rs2229487
NM_005529.7(HSPG2):c.12952C>A (p.Arg4318=) rs3736358
NM_005529.7(HSPG2):c.1818+15_1818+27del rs60267433
NM_005529.7(HSPG2):c.2471+21A>G rs2454293
NM_005529.7(HSPG2):c.444G>C (p.Leu148=) rs2254357
NM_005529.7(HSPG2):c.7446+34C>A rs6658388
NM_005529.7(HSPG2):c.744T>C (p.Leu248=) rs2229478

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