List of variants in gene HSPG2 reported as uncertain significance for connective tissue disorder

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=)	rs72866991	0.00243
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)	rs142736845	0.00133
NM_005529.7(HSPG2):c.745G>A (p.Val249Met)	rs148066529	0.00101
NM_005529.7(HSPG2):c.2725G>A (p.Gly909Ser)	rs137904249	0.00079
NM_005529.7(HSPG2):c.1557G>A (p.Leu519=)	rs149710901	0.00051
NM_005529.7(HSPG2):c.5206G>A (p.Val1736Ile)	rs200506675	0.00036
NM_005529.7(HSPG2):c.83C>T (p.Ala28Val)	rs754643779	0.00031
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val)	rs139794766	0.00025
NM_005529.7(HSPG2):c.11920G>A (p.Gly3974Arg)	rs370471445	0.00024
NM_005529.7(HSPG2):c.11970G>A (p.Glu3990=)	rs140509598	0.00021
NM_005529.7(HSPG2):c.1259G>A (p.Arg420Gln)	rs143706338	0.00019
NM_005529.7(HSPG2):c.3651C>T (p.Ala1217=)	rs371519713	0.00008
NM_005529.7(HSPG2):c.9616G>A (p.Ala3206Thr)	rs773860532	0.00008
NM_005529.7(HSPG2):c.9717C>T (p.Pro3239=)	rs375006314	0.00006
NM_005529.7(HSPG2):c.11904C>T (p.Phe3968=)	rs759194108	0.00004
NM_005529.7(HSPG2):c.4868+4G>A	rs200689461	0.00004
NM_005529.7(HSPG2):c.3445A>T (p.Ser1149Cys)	rs751653012	0.00003
NM_005529.7(HSPG2):c.7030C>T (p.Arg2344Cys)	rs752260236	0.00003
NM_005529.7(HSPG2):c.8152G>A (p.Gly2718Ser)	rs778350928	0.00003
NM_005529.7(HSPG2):c.2226C>T (p.Cys742=)	rs900156643	0.00002
NM_005529.7(HSPG2):c.3414+5G>A	rs764695599	0.00002
NM_005529.7(HSPG2):c.6307C>T (p.Arg2103Trp)	rs755167311	0.00002
NM_005529.7(HSPG2):c.12363C>T (p.Pro4121=)	rs761632172	0.00001
NM_005529.7(HSPG2):c.1355+5G>A	rs781394836	0.00001
NM_005529.7(HSPG2):c.1534C>T (p.Leu512=)	rs758125762	0.00001
NM_005529.7(HSPG2):c.5423G>A (p.Arg1808His)	rs561392976	0.00001
NM_005529.7(HSPG2):c.8317-7T>C	rs773039564	0.00001
NM_005529.7(HSPG2):c.12361C>G (p.Pro4121Ala)	rs1316660217
NM_005529.7(HSPG2):c.12532+4C>T	rs762689360
NM_005529.7(HSPG2):c.1371C>T (p.Ser457=)	rs770532300
NM_005529.7(HSPG2):c.8301C>T (p.Leu2767=)	rs2152711496
NM_005529.7(HSPG2):c.8787C>T (p.Ile2929=)	rs765768172

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