List of variants in gene combination HSPG2, LDLRAD2 reported as uncertain significance for Silverman-Handmaker type dyssegmental dysplasia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 38

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HGVS	dbSNP	gnomAD frequency
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.12786C>T (p.Leu4262=)	rs141936971	0.00056
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg)	rs148788926	0.00045
NM_001013693.3(LDLRAD2):c.*572G>A	rs752420673	0.00034
NM_001013693.3(LDLRAD2):c.*1278C>T	rs376645617	0.00031
NM_001013693.3(LDLRAD2):c.*284C>T	rs549986026	0.00027
NM_005529.7(HSPG2):c.12886G>C (p.Val4296Leu)	rs144217842	0.00026
NM_001013693.3(LDLRAD2):c.*420G>A	rs754815327	0.00024
NM_001013693.3(LDLRAD2):c.*1081C>T	rs568643216	0.00017
NM_001013693.3(LDLRAD2):c.*998C>T	rs777311066	0.00012
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln)	rs537908254	0.00012
NM_001013693.3(LDLRAD2):c.*883C>T	rs561927299	0.00010
NM_005529.7(HSPG2):c.13153A>G (p.Asn4385Asp)	rs752793818	0.00010
NM_001013693.3(LDLRAD2):c.*1056C>T	rs541474662	0.00009
NM_001013693.3(LDLRAD2):c.*502T>G	rs886046026	0.00009
NM_001013693.3(LDLRAD2):c.*277G>A	rs774542904	0.00006
NM_005529.7(HSPG2):c.13172C>T (p.Ser4391Leu)	rs961325868	0.00006
NM_001013693.3(LDLRAD2):c.*762G>T	rs575761790	0.00004
NM_005529.7(HSPG2):c.13005C>T (p.Gly4335=)	rs568526447	0.00004
NM_005529.7(HSPG2):c.12949G>A (p.Gly4317Ser)	rs567999404	0.00003
NM_001013693.3(LDLRAD2):c.*1003C>T	rs543277819	0.00002
NM_001013693.3(LDLRAD2):c.*33G>A	rs371757519	0.00002
NM_005529.7(HSPG2):c.12751G>A (p.Gly4251Arg)	rs1383334331	0.00002
NM_001013693.3(LDLRAD2):c.*451C>T	rs927771131	0.00001
NM_005529.7(HSPG2):c.13000A>G (p.Ile4334Val)	rs779443131	0.00001
NM_005529.7(HSPG2):c.13032C>T (p.Thr4344=)	rs778590896	0.00001
NM_001013693.3(LDLRAD2):c.*1062G>T	rs936423705
NM_001013693.3(LDLRAD2):c.*166G>C	rs2097953957
NM_001013693.3(LDLRAD2):c.*197C>T	rs886046025
NM_001013693.3(LDLRAD2):c.*2170G>A	rs1459647807
NM_001013693.3(LDLRAD2):c.*551T>C	rs1347707634
NM_001013693.3(LDLRAD2):c.*702G>T	rs2097955662
NM_001013693.3(LDLRAD2):c.*797C>T	rs1173808135
NM_001013693.3(LDLRAD2):c.*893C>G	rs886046027
NM_005529.7(HSPG2):c.12988G>A (p.Gly4330Ser)	rs769986876
NM_005529.7(HSPG2):c.13101C>T (p.Gly4367=)	rs1323835816
NM_005529.7(HSPG2):c.13159C>A (p.Arg4387Ser)	rs767431377

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